Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:967]
BBS
Chromosome 16: 56,533,744-56,543,901 reverse strand.
This transcript has 8 exons, is annotated with 5 domains and features, is associated with 4310 variant alleles and maps to 168 oligo probes.
This transcript is a product of gene ENSG00000125124.7 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000245157.5 | BBS2-001 | 2963 | 721aa | ENSP00000245157.5 | Protein coding | CCDS32451 | J3QLW0 Q8ND60 Q9BXC9 | NM_031885.3 | GENCODE basic, |
ENST00000568104.1 | BBS2-005 | 2623 | 675aa | ENSP00000456289.1 | Protein coding | H3BRL0 | - | GENCODE basic, | |
ENST00000564459.1 | BBS2-020 | 641 | 142aa | ENSP00000463731.1 | Protein coding | J3QLW0 | - | CDS 5' incomplete, | |
ENST00000569941.1 | BBS2-006 | 564 | 5aa | ENSP00000456741.1 | Protein coding | - | - | CDS 3' incomplete, | |
ENST00000564123.2 | BBS2-021 | 395 | 85aa | ENSP00000463176.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000562012.1 | BBS2-017 | 865 | 119aa | ENSP00000455651.1 | Nonsense mediated decay | H3BQ79 | - | CDS 5' incomplete, | |
ENST00000561877.1 | BBS2-010 | 588 | 76aa | ENSP00000454986.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000561951.1 | BBS2-019 | 845 | No protein | - | Processed transcript | - | - | - | |
ENST00000566689.1 | BBS2-007 | 578 | No protein | - | Processed transcript | - | - | - | |
ENST00000565378.1 | BBS2-008 | 574 | No protein | - | Processed transcript | - | - | - | |
ENST00000566410.1 | BBS2-011 | 350 | No protein | - | Processed transcript | - | - | - | |
ENST00000565781.1 | BBS2-002 | 6073 | No protein | - | Retained intron | - | - | - | |
ENST00000562813.1 | BBS2-003 | 4026 | No protein | - | Retained intron | - | - | - | |
ENST00000569342.1 | BBS2-004 | 1525 | No protein | - | Retained intron | - | - | - | |
ENST00000565859.1 | BBS2-009 | 775 | No protein | - | Retained intron | - | - | - | |
ENST00000566495.1 | BBS2-013 | 766 | No protein | - | Retained intron | - | - | - | |
ENST00000569192.1 | BBS2-015 | 716 | No protein | - | Retained intron | - | - | - | |
ENST00000562059.1 | BBS2-012 | 598 | No protein | - | Retained intron | - | - | - | |
ENST00000561853.1 | BBS2-018 | 473 | No protein | - | Retained intron | - | - | - | |
ENST00000566210.1 | BBS2-014 | 445 | No protein | - | Retained intron | - | - | - | |
ENST00000566452.1 | BBS2-016 | 299 | No protein | - | Retained intron | - | - | - |