Canonical Allele Identifier: CA1956310

Gene: BBS5

Linked Data

• ClinVar Variation Id: 412295
• ClinVar RCV Id: RCV000463506 ; RCV000765535 ; RCV001090461 ; RCV001821295 ; RCV003972762
• dbSNP Id: rs143113298
• ExAC: 2:170356065 A / G
• gnomAD v2: 2-170356065-A-G
• gnomAD v3: 2-169499555-A-G
• gnomAD v4: 2-169499555-A-G
• MyVariant Identifiers: chr2:g.170356065A>G (hg19) ; chr2:g.169499555A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169499555A>G , CM000664.2:g.169499555A>G	GRCh38
NC_000002.11:g.170356065A>G , CM000664.1:g.170356065A>G	GRCh37
NC_000002.10:g.170064311A>G	NCBI36
NG_011567.1:g.25060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.751A>G MANE Select	ENSP00000295240.3:p.Asn251Asp
ENST00000295240.7:c.751A>G	ENSP00000295240.3:p.Asn251Asp
ENST00000392663.6:c.688A>G	ENSP00000376431.2:p.Asn230Asp
ENST00000472667.1:n.522A>G
ENST00000513963.1:c.751A>G	ENSP00000424363.1:p.Asn251Asp
NM_152384.2:c.751A>G	NP_689597.1:p.Asn251Asp
NM_152384.3:c.751A>G MANE Select	NP_689597.1:p.Asn251Asp