The BBS2 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol BBS2
Gene name Bardet-Biedl syndrome 2
Chromosome 16
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_009312.2
Transcript reference NM_031885.3
Exon/intron information NM_031885.3 exon/intron table
Associated with diseases BBS2, ID, RP74, retinal disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 435
Unique public DNA variants reported 191
Individuals with public variants 2325
Hidden variants 12
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 28, 2012
Date last updated January 11, 2023
Version BBS2:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_031885.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 967
Entrez Gene 583
PubMed articles BBS2
OMIM - Gene 606151
OMIM - Diseases BBS2 (Bardet-Biedl syndrome, type 2 (BBS-2))
RP74 (retinitis pigmentosa, type 74 (RP74))
GeneCards BBS2
GeneTests BBS2
Orphanet BBS2

Active transcripts




NCBI ID     

NCBI Protein ID     

00003289 16 Bardet-Biedl syndrome 2 NM_031885.3 NP_114091.3 435

Copyright & disclaimer
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