Canonical Allele Identifier: CA224184

Gene: BBS5

Linked Data

• ClinVar Variation Id: 96498
• ClinVar RCV Id: RCV000249419 ; RCV001081706 ; RCV000766388
• dbSNP Id: rs143191074
• ExAC: 2:170350312 A / G
• gnomAD v2: 2-170350312-A-G
• gnomAD v3: 2-169493802-A-G
• gnomAD v4: 2-169493802-A-G
• MyVariant Identifiers: chr2:g.170350312A>G (hg19) ; chr2:g.169493802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169493802A>G , CM000664.2:g.169493802A>G	GRCh38
NC_000002.11:g.170350312A>G , CM000664.1:g.170350312A>G	GRCh37
NC_000002.10:g.170058558A>G	NCBI36
NG_011567.1:g.19307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.584A>G MANE Select	ENSP00000295240.3:p.Asp195Gly
ENST00000295240.7:c.584A>G	ENSP00000295240.3:p.Asp195Gly
ENST00000392663.6:c.584A>G	ENSP00000376431.2:p.Asp195Gly
ENST00000443151.1:c.*306A>G	ENSP00000406182.1:n.*306A>G
ENST00000513963.1:c.584A>G	ENSP00000424363.1:p.Asp195Gly
NM_152384.2:c.584A>G	NP_689597.1:p.Asp195Gly
NM_152384.3:c.584A>G MANE Select	NP_689597.1:p.Asp195Gly