Description

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

Synonyms

BBS

Location
About this transcript

This transcript has 17 exons, is annotated with 12 domains and features, is associated with 285 variations and maps to 36 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BBS2-001ENST000002451572963721aaENSP00000245157
 
Protein coding
CCDS32451Q9BXC9 NM_031885
NP_114091
TSL:1GENCODE basicAPPRIS P1
BBS2-005ENST000005681042623675aaENSP00000456289
 
Protein coding
-H3BRL0 -TSL:5GENCODE basic
BBS2-020ENST00000564459641142aaENSP00000463731
 
Protein coding
-J3QLW0 -CDS 5' incompleteTSL:3
BBS2-006ENST000005699415645aaENSP00000456741
 
Protein coding
---CDS 3' incompleteTSL:4
BBS2-021ENST0000056412339585aaENSP00000463176
 
Protein coding
-J3QKP7 -CDS 5' incompleteTSL:3
BBS2-017ENST00000562012865119aaENSP00000455651
 
Nonsense mediated decay
-H3BQ79 -CDS 5' incompleteTSL:5
BBS2-010ENST0000056187758876aaENSP00000454986
 
Nonsense mediated decay
-H3BNS7 -CDS 5' incompleteTSL:3
BBS2-019ENST00000561951845No protein-
 
Processed transcript
---TSL:3
BBS2-007ENST00000566689578No protein-
 
Processed transcript
---TSL:4
BBS2-008ENST00000565378574No protein-
 
Processed transcript
---TSL:4
BBS2-011ENST00000566410350No protein-
 
Processed transcript
---TSL:3
BBS2-002ENST000005657816073No protein-
 
Retained intron
---TSL:1
BBS2-003ENST000005628134026No protein-
 
Retained intron
---TSL:2
BBS2-004ENST000005693421525No protein-
 
Retained intron
---TSL:5
BBS2-009ENST00000565859775No protein-
 
Retained intron
---TSL:3
BBS2-013ENST00000566495766No protein-
 
Retained intron
---TSL:5
BBS2-015ENST00000569192716No protein-
 
Retained intron
---TSL:3
BBS2-012ENST00000562059598No protein-
 
Retained intron
---TSL:4
BBS2-018ENST00000561853473No protein-
 
Retained intron
---TSL:3
BBS2-014ENST00000566210445No protein-
 
Retained intron
---TSL:2
BBS2-016ENST00000566452299No protein-
 
Retained intron
---TSL:2

Protein domains for ENSP00000245157.5

Transcript-based displays