Human (GRCh38.p14)
Description

phosphomannomutase 2 [Source:HGNC Symbol;Acc:HGNC:9115]

Gene Synonyms

CDG1, CDG1A, CDGS, PMI, PMI1

Location
About this transcript

This transcript has 6 exons, is annotated with 1 domain and feature, is associated with 7956 variant alleles and maps to 111 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000268261.9PMM2-2012285246aaENSP00000268261.4
 
Protein coding
CCDS10536O15305-1 NM_000303.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000682008.1PMM2-2221085228aaENSP00000507849.1
 
Protein coding
A0A804HKA7 -GENCODE basic
ENST00000566983.5PMM2-215907219aaENSP00000457956.1
 
Protein coding
H3BV55 -GENCODE basicTSL:5
ENST00000569958.5PMM2-218698155aaENSP00000456302.1
 
Protein coding
H3BRM0 -GENCODE basicTSL:2
ENST00000682393.1PMM2-223260670aaENSP00000506774.1
 
Nonsense mediated decay
H3BV34 --
ENST00000566540.5PMM2-213155766aaENSP00000454284.1
 
Nonsense mediated decay
H3BM92 -TSL:1
ENST00000683274.1PMM2-2251295119aaENSP00000507262.1
 
Nonsense mediated decay
O15305-2 --
ENST00000683094.1PMM2-224115366aaENSP00000508230.1
 
Nonsense mediated decay
H3BM92 --
ENST00000683435.1PMM2-226104865aaENSP00000508092.1
 
Nonsense mediated decay
H3BR08 --
ENST00000570076.5PMM2-219100290aaENSP00000456961.1
 
Nonsense mediated decay
H3BT06 -TSL:2
ENST00000566604.5PMM2-214986119aaENSP00000456774.1
 
Nonsense mediated decay
O15305-2 -TSL:2
ENST00000562318.5PMM2-20393166aaENSP00000454395.1
 
Nonsense mediated decay
H3BM92 -TSL:2
ENST00000565221.5PMM2-20879370aaENSP00000457932.1
 
Nonsense mediated decay
H3BV34 -TSL:1
ENST00000570134.5PMM2-22057366aaENSP00000456275.1
 
Nonsense mediated decay
H3BM92 -TSL:5
ENST00000564069.1PMM2-206567142aaENSP00000455320.1
 
Nonsense mediated decay
H3BPH4 -TSL:4CDS 5' incomplete
ENST00000568602.5PMM2-21755091aaENSP00000455066.1
 
Nonsense mediated decay
H3BNY9 -TSL:5
ENST00000565896.5PMM2-21051465aaENSP00000456024.1
 
Nonsense mediated decay
H3BR08 -TSL:4
ENST00000684347.1PMM2-2281099No protein-
 
Protein coding CDS not defined
---
ENST00000565837.1PMM2-209625No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000562025.1PMM2-202569No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000567697.2PMM2-2165397No protein-
 
Retained intron
--TSL:1
ENST00000683761.1PMM2-2272365No protein-
 
Retained intron
---
ENST00000565934.2PMM2-2111054No protein-
 
Retained intron
--TSL:3
ENST00000564030.5PMM2-2051036No protein-
 
Retained intron
--TSL:2
ENST00000613908.1PMM2-221644No protein-
 
Retained intron
--TSL:NA
ENST00000562448.1PMM2-204583No protein-
 
Retained intron
--TSL:2
ENST00000566196.5PMM2-212531No protein-
 
Retained intron
--TSL:4
ENST00000564919.1PMM2-207409No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 6, Coding exons: 3, Transcript length: 514 bps, Translation length: 65 residues

Transcript Support Level (TSL)

TSL:4

Version

ENST00000565896.5

Type

Nonsense mediated decay

Annotation Method

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