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EnsemblEnsembl Home
Description

PMS1 homolog 2, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9122]

Gene Synonyms

HNPCC4, H_DJ0042M02.9, MLH4, PMSL2

Location
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000265849.12PMS2-2015093862aaENSP00000265849.7
 
Protein coding
CCDS5343P54278-1 NM_000535.7MANE Select v0.95Ensembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000642456.1PMS2-2092765727aaENSP00000493814.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000441476.6PMS2-2062730756aaENSP00000392843.2
 
Protein coding
CCDS83155C9J167 -GENCODE basicTSL:5
ENST00000642292.1PMS2-2082679727aaENSP00000495524.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000644110.1PMS2-2112271756aaENSP00000496392.1
 
Protein coding
CCDS83155C9J167 -GENCODE basic
ENST00000382321.5PMS2-2031386461aaENSP00000371758.4
 
Protein coding
-P54278-2 -GENCODE basicTSL:1
ENST00000643595.1PMS2-2102600183aaENSP00000494497.1
 
Nonsense mediated decay
-P54278-4 --
ENST00000406569.7PMS2-2041719No protein-
 
Processed transcript
---TSL:1
ENST00000469652.1PMS2-20793No protein-
 
Processed transcript
---TSL:1
ENST00000380416.5PMS2-2021103No protein-
 
Retained intron
---TSL:2
ENST00000415839.2PMS2-205924No protein-
 
Retained intron
---TSL:5
Description

calpain 3 [Source:HGNC Symbol;Acc:HGNC:1480]

Gene Synonyms

CANP3, LGMD2, LGMD2A, nCL-1, p94

Location
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000397163.8CAPN3-2063315821aaENSP00000380349.3
 
Protein coding
CCDS45245P20807-1 NM_000070.3MANE Select v0.95Ensembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000674139.1CAPN3-2564597156aaENSP00000501054.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000357568.8CAPN3-2053130815aaENSP00000350181.3
 
Protein coding
CCDS32207P20807-3 -GENCODE basicTSL:1
ENST00000349748.8CAPN3-2033045729aaENSP00000183936.4
 
Protein coding
CCDS10085P20807-2 -GENCODE basicTSL:1
ENST00000673886.1CAPN3-2362078156aaENSP00000501155.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000674093.1CAPN3-2521984156aaENSP00000501303.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000674146.1CAPN3-2581733156aaENSP00000501175.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000674149.1CAPN3-2591707156aaENSP00000501112.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000674018.1CAPN3-2471691156aaENSP00000501271.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000673851.1CAPN3-2341688156aaENSP00000501142.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000397200.8CAPN3-2071643309aaENSP00000380384.4
 
Protein coding
CCDS45246P20807-4 -GENCODE basicTSL:1
ENST00000673928.1CAPN3-2391437156aaENSP00000501099.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000673771.1CAPN3-2301418156aaENSP00000501023.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000673890.1CAPN3-2371416156aaENSP00000501293.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000673936.1CAPN3-2401317156aaENSP00000501189.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000337571.9CAPN3-2021304156aaENSP00000336840.4
 
Protein coding
CCDS10086P20807-5 -GENCODE basicTSL:1
ENST00000356316.7CAPN3-2041291156aaENSP00000348667.4
 
Protein coding
CCDS10086P20807-5 -GENCODE basicTSL:5
ENST00000397204.9CAPN3-2081263156aaENSP00000380387.4
 
Protein coding
CCDS10086P20807-5 -GENCODE basicTSL:1
ENST00000674119.1CAPN3-2531170156aaENSP00000501217.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000569136.6CAPN3-2191148156aaENSP00000455254.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basicTSL:2
ENST00000673692.1CAPN3-226861156aaENSP00000501138.1
 
Protein coding
CCDS10086P20807-5 -GENCODE basic
ENST00000673750.1CAPN3-2294195191aaENSP00000501173.1
 
Protein coding
-H3BS77 -GENCODE basic
ENST00000318023.11CAPN3-2013172773aaENSP00000326281.8
 
Protein coding
-F8W8F5 -GENCODE basicTSL:5
ENST00000674052.1CAPN3-2502354229aaENSP00000501057.1
 
Protein coding
-A0A669KB08 -GENCODE basic
ENST00000673978.1CAPN3-2431623202aaENSP00000500976.1
 
Protein coding
-A0A669KAB9 -GENCODE basic
ENST00000673743.1CAPN3-2281526122aaENSP00000500989.1
 
Protein coding
-A0A669KAX6 -GENCODE basic
ENST00000561817.5CAPN3-210915191aaENSP00000456575.1
 
Protein coding
-H3BS77 -GENCODE basicTSL:1
ENST00000569827.5CAPN3-220908255aaENSP00000454379.1
 
Protein coding
-H3BMH1 -TSL:5CDS 3' incomplete
ENST00000673839.1CAPN3-233897144aaENSP00000501188.1
 
Protein coding
-A0A669KB98 -CDS 3' incomplete
ENST00000674135.1CAPN3-255801201aaENSP00000501178.1
 
Protein coding
-A0A669KBA3 -CDS 3' incomplete
ENST00000674041.1CAPN3-249725184aaENSP00000500956.1
 
Protein coding
-A0A669KAU6 -CDS 3' incomplete
ENST00000565559.5CAPN3-215711157aaENSP00000457878.1
 
Protein coding
-H3BUZ3 -TSL:3CDS 3' incomplete
ENST00000564503.5CAPN3-212593169aaENSP00000457898.1
 
Protein coding
-H3BV08 -TSL:5CDS 5' incomplete
ENST00000567071.5CAPN3-216563188aaENSP00000456607.1
 
Protein coding
-H3BSA2 -TSL:4CDS 5' and 3' incomplete
ENST00000673705.1CAPN3-227223984aaENSP00000501021.1
 
Nonsense mediated decay
-A0A669KB02 -CDS 5' incomplete
ENST00000673987.1CAPN3-244135099aaENSP00000501231.1
 
Nonsense mediated decay
-A0A669KBE1 --
ENST00000674011.1CAPN3-245134899aaENSP00000501171.1
 
Nonsense mediated decay
-A0A669KBE1 --
ENST00000673939.1CAPN3-241128899aaENSP00000501129.1
 
Nonsense mediated decay
-A0A669KBE1 --
ENST00000673646.1CAPN3-222102783aaENSP00000501007.1
 
Nonsense mediated decay
-A0A0S2Z3E6 --
ENST00000568153.2CAPN3-218769110aaENSP00000454937.2
 
Nonsense mediated decay
-H3BNN7 -TSL:5CDS 5' incomplete
ENST00000565274.5CAPN3-214734110aaENSP00000457759.1
 
Nonsense mediated decay
-H3BUR3 -TSL:5CDS 5' incomplete
ENST00000567817.6CAPN3-21771884aaENSP00000456514.2
 
Nonsense mediated decay
-H3BS30 -TSL:5CDS 5' incomplete
ENST00000562199.2CAPN3-211469109aaENSP00000501034.1
 
Nonsense mediated decay
-A0A669KB11 -TSL:5CDS 5' incomplete
ENST00000673893.1CAPN3-23841143aaENSP00000500987.1
 
Nonsense mediated decay
-A0A669KAU4 -CDS 5' incomplete
ENST00000638141.2CAPN3-2212745No protein-
 
Processed transcript
---TSL:5
ENST00000674140.1CAPN3-2571577No protein-
 
Processed transcript
----
ENST00000673658.1CAPN3-2231166No protein-
 
Processed transcript
----
ENST00000673950.1CAPN3-242913No protein-
 
Processed transcript
----
ENST00000565173.2CAPN3-213879No protein-
 
Processed transcript
---TSL:4
ENST00000674012.1CAPN3-246796No protein-
 
Processed transcript
----
ENST00000674064.1CAPN3-251794No protein-
 
Processed transcript
----
ENST00000673854.1CAPN3-2356433No protein-
 
Retained intron
----
ENST00000673774.1CAPN3-2311724No protein-
 
Retained intron
----
ENST00000466222.7CAPN3-2091366No protein-
 
Retained intron
---TSL:2
ENST00000673813.1CAPN3-2321102No protein-
 
Retained intron
----
ENST00000673687.1CAPN3-2251071No protein-
 
Retained intron
----
ENST00000674027.1CAPN3-248799No protein-
 
Retained intron
----
ENST00000674130.1CAPN3-254705No protein-
 
Retained intron
----
ENST00000673684.1CAPN3-224521No protein-
 
Retained intron
----
Description

dystrophin [Source:HGNC Symbol;Acc:HGNC:2928]

Gene Synonyms

BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

Location
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000357033.9DMD-203139923685aaENSP00000354923.3
 
Protein coding
CCDS14233A0A075B6G3 NM_004006.3MANE Select v0.95Ensembl CanonicalGENCODE basicAPPRIS P3TSL:1
ENST00000378677.6DMD-207139323681aaENSP00000367948.2
 
Protein coding
CCDS55395A0A5H1ZRP8 -GENCODE basicAPPRIS ALT2TSL:5
ENST00000378707.7DMD-21174101225aaENSP00000367979.3
 
Protein coding
CCDS48091A0A5H1ZRQ1 -GENCODE basicTSL:5
ENST00000541735.5DMD-22670801115aaENSP00000444119.1
 
Protein coding
CCDS55394A0A5H1ZRR9 -GENCODE basicTSL:5
ENST00000378723.7DMD-2124645635aaENSP00000367997.3
 
Protein coding
CCDS14231P11532-6 -GENCODE basicTSL:1
ENST00000378702.8DMD-2092617617aaENSP00000367974.4
 
Protein coding
CCDS14234P11532-7 -GENCODE basicTSL:1
ENST00000361471.8DMD-2062224622aaENSP00000354464.4
 
Protein coding
CCDS14232P11532-5 -GENCODE basicTSL:1
ENST00000619831.5DMD-22799032341aaENSP00000479270.2
 
Protein coding
-A0A087WV90 -GENCODE basicTSL:5
ENST00000684130.1DMD-28373611212aaENSP00000508037.1
 
Protein coding
---GENCODE basic
ENST00000359836.5DMD-20573391230aaENSP00000352894.1
 
Protein coding
-A0A5H1ZRP9 -GENCODE basicTSL:5
ENST00000682238.1DMD-25670371133aaENSP00000508124.1
 
Protein coding
---GENCODE basic
ENST00000620040.5DMD-22869411154aaENSP00000478150.2
 
Protein coding
-A0A087WTU7 -GENCODE basicTSL:5
ENST00000358062.6DMD-20467731386aaENSP00000350765.2
 
Protein coding
-H0Y304 -TSL:5CDS 5' incomplete
ENST00000343523.7DMD-2025806970aaENSP00000340057.4
 
Protein coding
-A0A5H1ZRP7 -GENCODE basicTSL:5
ENST00000474231.5DMD-22052091243aaENSP00000417123.1
 
Protein coding
-A0A5H1ZRQ8 -GENCODE basicTSL:5
ENST00000682600.1DMD-2624633604aaENSP00000507640.1
 
Protein coding
---GENCODE basic
ENST00000682322.1DMD-2584567582aaENSP00000507690.1
 
Protein coding
---GENCODE basic
ENST00000680162.2DMD-2374535600aaENSP00000506634.2
 
Protein coding
---GENCODE basic
ENST00000680355.1DMD-2394342507aaENSP00000506257.1
 
Protein coding
---GENCODE basic
ENST00000288447.9DMD-2014024772aaENSP00000288447.4
 
Protein coding
-Q4G0X0 -GENCODE basicTSL:1
ENST00000680768.2DMD-2423889584aaENSP00000506359.2
 
Protein coding
---GENCODE basic
ENST00000679437.1DMD-2313711257aaENSP00000506629.1
 
Protein coding
---GENCODE basic
ENST00000681026.1DMD-2443550257aaENSP00000506689.1
 
Protein coding
---GENCODE basic
ENST00000680557.1DMD-2403367216aaENSP00000505164.1
 
Protein coding
-A0A0S2Z3B2 -GENCODE basic
ENST00000681870.1DMD-250268929aaENSP00000506709.1
 
Protein coding
---GENCODE basic
ENST00000682071.1DMD-2522287524aaENSP00000508133.1
 
Protein coding
---CDS 3' incomplete
ENST00000681153.1DMD-2452210594aaENSP00000505124.1
 
Protein coding
---GENCODE basic
ENST00000378680.6DMD-2081858525aaENSP00000367951.2
 
Protein coding
-P11532-9 -GENCODE basicTSL:1
ENST00000684237.1DMD-2851658491aaENSP00000507277.1
 
Protein coding
---CDS 3' incomplete
ENST00000681334.1DMD-2461296227aaENSP00000506066.1
 
Protein coding
---GENCODE basic
ENST00000681839.1DMD-249996285aaENSP00000505228.1
 
Protein coding
---CDS 3' incomplete
ENST00000679706.1DMD-235873257aaENSP00000506310.1
 
Protein coding
---CDS 5' incomplete
ENST00000378705.3DMD-210714238aaENSP00000367977.3
 
Protein coding
-H0Y3E8 -TSL:5CDS 5' and 3' incomplete
ENST00000493412.1DMD-225616134aaENSP00000417725.1
 
Protein coding
-H0Y864 -TSL:2CDS 5' incomplete
ENST00000447523.1DMD-214375125aaENSP00000395904.1
 
Protein coding
-Q14174 -TSL:1CDS 5' and 3' incomplete
ENST00000420596.5DMD-213303101aaENSP00000399897.1
 
Protein coding
-Q14172 -TSL:5CDS 3' incomplete
ENST00000680216.1DMD-23824231aaENSP00000506462.1
 
Protein coding
---CDS 5' incomplete
ENST00000448370.5DMD-21512341aaENSP00000388559.1
 
Protein coding
-A0A0B4J1W6 -TSL:5CDS 3' incomplete
ENST00000680961.1DMD-2437161816aaENSP00000506386.1
 
Nonsense mediated decay
----
ENST00000679641.1DMD-2334139208aaENSP00000506135.1
 
Nonsense mediated decay
----
ENST00000682924.1DMD-2671975449aaENSP00000508187.1
 
Nonsense mediated decay
----
ENST00000471779.1DMD-21736230aaENSP00000417075.1
 
Nonsense mediated decay
-A0A0C4DH61 -TSL:1CDS 5' incomplete
ENST00000683675.1DMD-2744837No protein-
 
Processed transcript
----
ENST00000681989.1DMD-2514524No protein-
 
Processed transcript
----
ENST00000683709.1DMD-2754470No protein-
 
Processed transcript
----
ENST00000683957.1DMD-2774250No protein-
 
Processed transcript
----
ENST00000682769.1DMD-2643629No protein-
 
Processed transcript
----
ENST00000683509.1DMD-2722867No protein-
 
Processed transcript
----
ENST00000683309.1DMD-2691855No protein-
 
Processed transcript
----
ENST00000488902.5DMD-224771No protein-
 
Processed transcript
---TSL:2
ENST00000634315.1DMD-230655No protein-
 
Processed transcript
---TSL:2
ENST00000481143.2DMD-223621No protein-
 
Processed transcript
---TSL:3
ENST00000463609.2DMD-216618No protein-
 
Processed transcript
---TSL:4
ENST00000472266.1DMD-218380No protein-
 
Processed transcript
---TSL:5
ENST00000472681.1DMD-219371No protein-
 
Processed transcript
---TSL:2
ENST00000480751.1DMD-222234No protein-
 
Processed transcript
---TSL:1
ENST00000679850.1DMD-2368749No protein-
 
Retained intron
----
ENST00000683503.1DMD-2717004No protein-
 
Retained intron
----
ENST00000684342.1DMD-2886233No protein-
 
Retained intron
----
ENST00000684103.1DMD-2825597No protein-
 
Retained intron
----
ENST00000683995.1DMD-2795334No protein-
 
Retained intron
----
ENST00000684350.1DMD-2894852No protein-
 
Retained intron
----
ENST00000682899.1DMD-2664650No protein-
 
Retained intron
----
ENST00000684247.1DMD-2864446No protein-
 
Retained intron
----
ENST00000683117.1DMD-2684022No protein-
 
Retained intron
----
ENST00000684072.1DMD-2813806No protein-
 
Retained intron
----
ENST00000681646.1DMD-2473648No protein-
 
Retained intron
----
ENST00000680701.1DMD-2413513No protein-
 
Retained intron
----
ENST00000679482.1DMD-2323278No protein-
 
Retained intron
----
ENST00000683985.1DMD-2783159No protein-
 
Retained intron
----
ENST00000682207.1DMD-2553157No protein-
 
Retained intron
----
ENST00000683450.1DMD-2703151No protein-
 
Retained intron
----
ENST00000679669.1DMD-2342811No protein-
 
Retained intron
----
ENST00000475732.3DMD-2212668No protein-
 
Retained intron
---TSL:5
ENST00000684056.1DMD-2802625No protein-
 
Retained intron
----
ENST00000682746.1DMD-2632427No protein-
 
Retained intron
----
ENST00000682135.1DMD-2532405No protein-
 
Retained intron
----
ENST00000684165.1DMD-2842341No protein-
 
Retained intron
----
ENST00000684292.1DMD-2872291No protein-
 
Retained intron
----
ENST00000683851.1DMD-2762257No protein-
 
Retained intron
----
ENST00000683658.1DMD-2732000No protein-
 
Retained intron
----
ENST00000682307.1DMD-2571899No protein-
 
Retained intron
----
ENST00000682584.1DMD-2611706No protein-
 
Retained intron
----
ENST00000682870.1DMD-2651632No protein-
 
Retained intron
----
ENST00000684357.1DMD-2901560No protein-
 
Retained intron
----
ENST00000684660.1DMD-2911525No protein-
 
Retained intron
----
ENST00000681654.1DMD-2481400No protein-
 
Retained intron
----
ENST00000682183.1DMD-2541286No protein-
 
Retained intron
----
ENST00000682439.1DMD-2601109No protein-
 
Retained intron
----
ENST00000682437.1DMD-2591056No protein-
 
Retained intron
----
ENST00000634285.1DMD-229671No protein-
 
Retained intron
---TSL:NA
Statistics

Exons: 33, Coding exons: 26, Transcript length: 6,941 bps, Translation length: 1,154 residues

Transcript Support Level (TSL)

TSL:5

Version

ENST00000620040.5

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported only [Definitions]

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays

    HASH(0x3159acc0)