Canonical Allele Identifier: CA350451091

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1784070
• ClinVar RCV Id: RCV002417007
• gnomAD v4: 2-214730415-T-C
• MyVariant Identifiers: chr2:g.215595139T>C (hg19) ; chr2:g.214730415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730415T>C , CM000664.2:g.214730415T>C	GRCh38
NC_000002.11:g.215595139T>C , CM000664.1:g.215595139T>C	GRCh37
NC_000002.10:g.215303384T>C	NCBI36
NG_012047.2:g.84290A>G
NG_012047.3:g.84297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1997A>G MANE Select	ENSP00000260947.4:p.Gln666Arg
ENST00000421162.2:c.644A>G	ENSP00000392245.2:p.Gln215Arg
ENST00000613192.2:c.*60A>G	ENSP00000483275.2:n.*60A>G
ENST00000613374.5:c.587A>G	ENSP00000484464.1:p.Gln196Arg
ENST00000613706.5:c.1589A>G	ENSP00000484976.2:p.Gln530Arg
ENST00000617164.5:c.1940A>G	ENSP00000480470.1:p.Gln647Arg
ENST00000619009.5:c.458A>G	ENSP00000482293.1:p.Gln153Arg
ENST00000650978.1:c.3372A>G
ENST00000260947.8:c.1997A>G	ENSP00000260947.4:p.Gln666Arg
ENST00000421162.1:c.644A>G	ENSP00000392245.1:p.Gln215Arg
ENST00000432456.5:c.94A>G
ENST00000455743.5:c.*1617A>G	ENSP00000412186.1:n.*1617A>G
ENST00000471590.5:n.332A>G
ENST00000613192.1:c.167A>G	ENSP00000483275.1:p.Gln56Arg
ENST00000613374.4:c.587A>G	ENSP00000484464.1:p.Gln196Arg
ENST00000613706.4:c.644A>G	ENSP00000484976.1:p.Gln215Arg
ENST00000617164.4:c.1940A>G	ENSP00000480470.1:p.Gln647Arg
ENST00000619009.4:c.458A>G	ENSP00000482293.1:p.Gln153Arg
ENST00000620057.4:c.*663A>G	ENSP00000481988.1:n.*663A>G
NM_000465.3:c.1997A>G	NP_000456.2:p.Gln666Arg
NM_001282543.1:c.1940A>G	NP_001269472.1:p.Gln647Arg
NM_001282545.1:c.644A>G	NP_001269474.1:p.Gln215Arg
NM_001282548.1:c.587A>G	NP_001269477.1:p.Gln196Arg
NM_001282549.1:c.458A>G	NP_001269478.1:p.Gln153Arg
NR_104212.1:n.1990A>G
NR_104215.1:n.1933A>G
NR_104216.1:n.1189A>G
XM_011511567.1:c.1943A>G	XP_011509869.1:p.Gln648Arg
XM_017004613.1:c.2096A>G	XP_016860102.1:p.Gln699Arg
XR_002959322.1:n.2187A>G
NM_000465.4:c.1997A>G MANE Select	NP_000456.2:p.Gln666Arg
NM_001282543.2:c.1940A>G	NP_001269472.1:p.Gln647Arg
NM_001282545.2:c.644A>G	NP_001269474.1:p.Gln215Arg
NM_001282548.2:c.587A>G	NP_001269477.1:p.Gln196Arg
NM_001282549.2:c.458A>G	NP_001269478.1:p.Gln153Arg
NR_104212.2:n.1962A>G
NR_104215.2:n.1905A>G
NR_104216.2:n.1161A>G