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Human (GRCh37.p13)
Description

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

Gene Synonyms

BBS

Location

Chromosome 16: 56,500,748-56,554,195 reverse strand.

GRCh37:CM000678.1

About this gene

This gene has 21 transcripts (splice variants) and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000245157.5BBS2-0012963721aaENSP00000245157.5
 
Protein coding
CCDS32451J3QLW0 Q8ND60 Q9BXC9
NM_031885.3Ensembl CanonicalGENCODE basic
ENST00000568104.1BBS2-0052623675aaENSP00000456289.1
 
Protein coding
H3BRL0 -GENCODE basic
ENST00000564459.1BBS2-020641142aaENSP00000463731.1
 
Protein coding
J3QLW0 -CDS 5' incomplete
ENST00000569941.1BBS2-0065645aaENSP00000456741.1
 
Protein coding
--CDS 3' incomplete
ENST00000564123.2BBS2-02139585aaENSP00000463176.1
 
Protein coding
--CDS 5' incomplete
ENST00000562012.1BBS2-017865119aaENSP00000455651.1
 
Nonsense mediated decay
H3BQ79 -CDS 5' incomplete
ENST00000561877.1BBS2-01058876aaENSP00000454986.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000561951.1BBS2-019845No protein-
 
Processed transcript
---
ENST00000566689.1BBS2-007578No protein-
 
Processed transcript
---
ENST00000565378.1BBS2-008574No protein-
 
Processed transcript
---
ENST00000566410.1BBS2-011350No protein-
 
Processed transcript
---
ENST00000565781.1BBS2-0026073No protein-
 
Retained intron
---
ENST00000562813.1BBS2-0034026No protein-
 
Retained intron
---
ENST00000569342.1BBS2-0041525No protein-
 
Retained intron
---
ENST00000565859.1BBS2-009775No protein-
 
Retained intron
---
ENST00000566495.1BBS2-013766No protein-
 
Retained intron
---
ENST00000569192.1BBS2-015716No protein-
 
Retained intron
---
ENST00000562059.1BBS2-012598No protein-
 
Retained intron
---
ENST00000561853.1BBS2-018473No protein-
 
Retained intron
---
ENST00000566210.1BBS2-014445No protein-
 
Retained intron
---
ENST00000566452.1BBS2-016299No protein-
 
Retained intron
---