Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:HGNC:967]

Gene Synonyms

BBS

Location
About this transcript

This transcript has 16 exons, is annotated with 11 domains and features, is associated with 14997 variant alleles and maps to 491 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000245157.11BBS2-2012704721aaENSP00000245157.5
 
Protein coding
CCDS32451Q9BXC9 NM_031885.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000682470.1BBS2-2433688721aaENSP00000507654.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682930.1BBS2-2622998696aaENSP00000507981.1
 
Protein coding
A0A804HKL9 -GENCODE basic
ENST00000682205.1BBS2-2362935721aaENSP00000508377.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682737.1BBS2-2562835522aaENSP00000506876.1
 
Protein coding
A0A804HI33 -GENCODE basic
ENST00000682188.1BBS2-2342828736aaENSP00000507655.1
 
Protein coding
A0A804HJV0 -GENCODE basic
ENST00000683858.1BBS2-2872735705aaENSP00000507657.1
 
Protein coding
A0A804HJV2 -GENCODE basic
ENST00000684635.1BBS2-3062671686aaENSP00000507335.1
 
Protein coding
A0A804HJ30 -GENCODE basic
ENST00000683875.1BBS2-2882647645aaENSP00000507602.1
 
Protein coding
A0A804HJQ5 -GENCODE basic
ENST00000568104.6BBS2-2182639675aaENSP00000456289.1
 
Protein coding
H3BRL0 -GENCODE basicTSL:5
ENST00000682047.1BBS2-2282572721aaENSP00000507699.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682855.1BBS2-2582540721aaENSP00000507027.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682482.1BBS2-2452404679aaENSP00000507903.1
 
Protein coding
A0A804HKF2 -GENCODE basic
ENST00000682360.1BBS2-2382341522aaENSP00000508007.1
 
Protein coding
A0A804HI33 -GENCODE basic
ENST00000569941.6BBS2-22162155aaENSP00000456741.2
 
Protein coding
A0A804F8L3 -TSL:4CDS 3' incomplete
ENST00000682088.1BBS2-2296759237aaENSP00000508064.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682735.1BBS2-2555158237aaENSP00000507007.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683690.1BBS2-2844942237aaENSP00000508152.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682543.1BBS2-2483138237aaENSP00000507592.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000684246.1BBS2-3023130237aaENSP00000508273.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683644.1BBS2-2812951361aaENSP00000507914.1
 
Nonsense mediated decay
A0A804HKG1 --
ENST00000682493.1BBS2-2472928509aaENSP00000506778.1
 
Nonsense mediated decay
A0A804HHV5 --
ENST00000682875.1BBS2-2602812659aaENSP00000507771.1
 
Nonsense mediated decay
A0A804HK50 --
ENST00000684673.1BBS2-3082794510aaENSP00000507746.1
 
Nonsense mediated decay
A0A804HK25 --
ENST00000683384.1BBS2-2732784198aaENSP00000508330.1
 
Nonsense mediated decay
A0A804HLF5 -CDS 5' incomplete
ENST00000683992.1BBS2-2942781237aaENSP00000508144.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682429.1BBS2-2412739428aaENSP00000506827.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000682187.1BBS2-2332713237aaENSP00000507203.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682348.1BBS2-2372712361aaENSP00000506965.1
 
Nonsense mediated decay
A0A804HKG1 --
ENST00000682449.1BBS2-2422638367aaENSP00000507836.1
 
Nonsense mediated decay
A0A804HK97 --
ENST00000682038.1BBS2-2272613243aaENSP00000508404.1
 
Nonsense mediated decay
A0A804HLL2 --
ENST00000683020.1BBS2-2662611428aaENSP00000507944.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000682658.1BBS2-2522610312aaENSP00000507773.1
 
Nonsense mediated decay
A0A804HK51 --
ENST00000682723.1BBS2-2542590460aaENSP00000507115.1
 
Nonsense mediated decay
A0A804HIK5 --
ENST00000683959.1BBS2-2912563162aaENSP00000508309.1
 
Nonsense mediated decay
A0A804HLD7 --
ENST00000561877.2BBS2-2032507121aaENSP00000454986.2
 
Nonsense mediated decay
H3BNS7 -TSL:3CDS 5' incomplete
ENST00000684640.1BBS2-3072466264aaENSP00000507292.1
 
Nonsense mediated decay
A0A804HIZ8 -CDS 5' incomplete
ENST00000683212.1BBS2-2692366428aaENSP00000507839.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000683976.1BBS2-2922344158aaENSP00000507183.1
 
Nonsense mediated decay
A0A804HIQ9 --
ENST00000684684.1BBS2-3092301237aaENSP00000507026.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683533.1BBS2-279229538aaENSP00000508296.1
 
Nonsense mediated decay
A0A804HLC6 --
ENST00000562012.2BBS2-205165249aaENSP00000455651.2
 
Nonsense mediated decay
H3BQ79 -TSL:5
ENST00000683978.1BBS2-2932937No protein-
 
Protein coding CDS not defined
---
ENST00000683757.1BBS2-2862783No protein-
 
Protein coding CDS not defined
---
ENST00000682201.1BBS2-2352475No protein-
 
Protein coding CDS not defined
---
ENST00000682473.1BBS2-2442209No protein-
 
Protein coding CDS not defined
---
ENST00000683719.1BBS2-2852162No protein-
 
Protein coding CDS not defined
---
ENST00000564459.6BBS2-2091094No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000565378.2BBS2-2101017No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000561951.5BBS2-204845No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000566689.5BBS2-217578No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000683504.1BBS2-2788161No protein-
 
Retained intron
---
ENST00000566410.2BBS2-2146412No protein-
 
Retained intron
--TSL:3
ENST00000565781.6BBS2-2116109No protein-
 
Retained intron
--TSL:1
ENST00000683008.1BBS2-2655995No protein-
 
Retained intron
---
ENST00000683910.1BBS2-2905593No protein-
 
Retained intron
---
ENST00000683396.1BBS2-2745347No protein-
 
Retained intron
---
ENST00000683485.1BBS2-2775138No protein-
 
Retained intron
---
ENST00000683904.1BBS2-2895121No protein-
 
Retained intron
---
ENST00000682096.1BBS2-2305020No protein-
 
Retained intron
---
ENST00000682960.1BBS2-2644811No protein-
 
Retained intron
---
ENST00000682113.1BBS2-2314787No protein-
 
Retained intron
---
ENST00000682597.1BBS2-2504757No protein-
 
Retained intron
---
ENST00000683609.1BBS2-2804639No protein-
 
Retained intron
---
ENST00000683099.1BBS2-2674599No protein-
 
Retained intron
---
ENST00000683248.1BBS2-2704528No protein-
 
Retained intron
---
ENST00000562813.2BBS2-2074304No protein-
 
Retained intron
--TSL:2
ENST00000683170.1BBS2-2684267No protein-
 
Retained intron
---
ENST00000682757.1BBS2-2574263No protein-
 
Retained intron
---
ENST00000684205.1BBS2-3014249No protein-
 
Retained intron
---
ENST00000684194.1BBS2-3004201No protein-
 
Retained intron
---
ENST00000684128.1BBS2-2994138No protein-
 
Retained intron
---
ENST00000566452.2BBS2-2154062No protein-
 
Retained intron
--TSL:2
ENST00000684446.1BBS2-3044054No protein-
 
Retained intron
---
ENST00000684531.1BBS2-3054012No protein-
 
Retained intron
---
ENST00000682370.1BBS2-2393936No protein-
 
Retained intron
---
ENST00000684076.1BBS2-2983929No protein-
 
Retained intron
---
ENST00000684402.1BBS2-3033811No protein-
 
Retained intron
---
ENST00000682146.1BBS2-2323727No protein-
 
Retained intron
---
ENST00000682705.1BBS2-2533639No protein-
 
Retained intron
---
ENST00000565859.2BBS2-2123614No protein-
 
Retained intron
--TSL:3
ENST00000682948.1BBS2-2633602No protein-
 
Retained intron
---
ENST00000682001.1BBS2-2243599No protein-
 
Retained intron
---
ENST00000684044.1BBS2-2963558No protein-
 
Retained intron
---
ENST00000684057.1BBS2-2973443No protein-
 
Retained intron
---
ENST00000683343.1BBS2-2713424No protein-
 
Retained intron
---
ENST00000569342.6BBS2-2203127No protein-
 
Retained intron
--TSL:5
ENST00000682420.1BBS2-2403117No protein-
 
Retained intron
---
ENST00000682919.1BBS2-2613082No protein-
 
Retained intron
---
ENST00000683410.1BBS2-2753021No protein-
 
Retained intron
---
ENST00000684020.1BBS2-2952992No protein-
 
Retained intron
---
ENST00000683347.1BBS2-2722777No protein-
 
Retained intron
---
ENST00000566210.2BBS2-2132749No protein-
 
Retained intron
--TSL:2
ENST00000562059.2BBS2-2062634No protein-
 
Retained intron
--TSL:4
ENST00000683660.1BBS2-2822539No protein-
 
Retained intron
---
ENST00000682492.1BBS2-2462511No protein-
 
Retained intron
---
ENST00000682005.1BBS2-2252451No protein-
 
Retained intron
---
ENST00000683443.1BBS2-2762428No protein-
 
Retained intron
---
ENST00000682000.1BBS2-2232352No protein-
 
Retained intron
---
ENST00000682857.1BBS2-2592286No protein-
 
Retained intron
---
ENST00000683669.1BBS2-2832064No protein-
 
Retained intron
---
ENST00000682021.1BBS2-2261994No protein-
 
Retained intron
---
ENST00000682561.1BBS2-2491589No protein-
 
Retained intron
---
ENST00000618027.2BBS2-2221558No protein-
 
Retained intron
--TSL:NA
ENST00000569192.6BBS2-2191420No protein-
 
Retained intron
--TSL:3
ENST00000564123.7BBS2-2081391No protein-
 
Retained intron
--TSL:3
ENST00000682623.1BBS2-2511027No protein-
 
Retained intron
---
ENST00000566495.2BBS2-216879No protein-
 
Retained intron
--TSL:5
ENST00000561853.1BBS2-202473No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 16, Coding exons: 16, Transcript length: 2,404 bps, Translation length: 679 residues

Version

ENST00000682482.1

Type

Protein coding

Annotation Method

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

Annotation Attributes

RNA-Seq supported partial [Definitions]

GENCODE basic gene

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