Canonical Allele Identifier: CA179794

Gene: BBS5

Linked Data

• ClinVar Variation Id: 100605
• ClinVar RCV Id: RCV000087001 ; RCV000152843 ; RCV000504860 ; RCV001257073
• dbSNP Id: rs137853921
• ExAC: 2:170350279 A / G
• gnomAD v2: 2-170350279-A-G
• gnomAD v3: 2-169493769-A-G
• gnomAD v4: 2-169493769-A-G
• MyVariant Identifiers: chr2:g.170350279A>G (hg19) ; chr2:g.169493769A>G (hg38)
• PubMed: PMID:15137946 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169493769A>G , CM000664.2:g.169493769A>G	GRCh38
NC_000002.11:g.170350279A>G , CM000664.1:g.170350279A>G	GRCh37
NC_000002.10:g.170058525A>G	NCBI36
NG_011567.1:g.19274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.551A>G MANE Select	ENSP00000295240.3:p.Asn184Ser
ENST00000295240.7:c.551A>G	ENSP00000295240.3:p.Asn184Ser
ENST00000392663.6:c.551A>G	ENSP00000376431.2:p.Asn184Ser
ENST00000443151.1:c.*273A>G	ENSP00000406182.1:n.*273A>G
ENST00000513963.1:c.551A>G	ENSP00000424363.1:p.Asn184Ser
NM_152384.2:c.551A>G	NP_689597.1:p.Asn184Ser
NM_152384.3:c.551A>G MANE Select	NP_689597.1:p.Asn184Ser