Canonical Allele Identifier: CA350451245

Gene: BARD1

Linked Data

• ClinVar Variation Id: 641247
• ClinVar RCV Id: RCV000794447
• dbSNP Id: rs1574707186
• MyVariant Identifiers: chr2:g.215595205A>C (hg19) ; chr2:g.214730481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730481A>C , CM000664.2:g.214730481A>C	GRCh38
NC_000002.11:g.215595205A>C , CM000664.1:g.215595205A>C	GRCh37
NC_000002.10:g.215303450A>C	NCBI36
NG_012047.2:g.84224T>G
NG_012047.3:g.84231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1931T>G MANE Select	ENSP00000260947.4:p.Val644Gly
ENST00000421162.2:c.578T>G	ENSP00000392245.2:p.Val193Gly
ENST00000613192.2:c.186T>G	ENSP00000483275.2:p.Ser62Arg
ENST00000613374.5:c.521T>G	ENSP00000484464.1:p.Val174Gly
ENST00000613706.5:c.1523T>G	ENSP00000484976.2:p.Val508Gly
ENST00000617164.5:c.1874T>G	ENSP00000480470.1:p.Val625Gly
ENST00000619009.5:c.392T>G	ENSP00000482293.1:p.Val131Gly
ENST00000650978.1:c.3306T>G
ENST00000260947.8:c.1931T>G	ENSP00000260947.4:p.Val644Gly
ENST00000421162.1:c.578T>G	ENSP00000392245.1:p.Val193Gly
ENST00000432456.5:c.28T>G
ENST00000455743.5:c.*1551T>G	ENSP00000412186.1:n.*1551T>G
ENST00000471590.5:n.266T>G
ENST00000613192.1:c.101T>G	ENSP00000483275.1:p.Val34Gly
ENST00000613374.4:c.521T>G	ENSP00000484464.1:p.Val174Gly
ENST00000613706.4:c.578T>G	ENSP00000484976.1:p.Val193Gly
ENST00000617164.4:c.1874T>G	ENSP00000480470.1:p.Val625Gly
ENST00000619009.4:c.392T>G	ENSP00000482293.1:p.Val131Gly
ENST00000620057.4:c.*597T>G	ENSP00000481988.1:n.*597T>G
NM_000465.3:c.1931T>G	NP_000456.2:p.Val644Gly
NM_001282543.1:c.1874T>G	NP_001269472.1:p.Val625Gly
NM_001282545.1:c.578T>G	NP_001269474.1:p.Val193Gly
NM_001282548.1:c.521T>G	NP_001269477.1:p.Val174Gly
NM_001282549.1:c.392T>G	NP_001269478.1:p.Val131Gly
NR_104212.1:n.1924T>G
NR_104215.1:n.1867T>G
NR_104216.1:n.1123T>G
XM_011511567.1:c.1877T>G	XP_011509869.1:p.Val626Gly
XM_017004613.1:c.2030T>G	XP_016860102.1:p.Val677Gly
XR_002959322.1:n.2121T>G
NM_000465.4:c.1931T>G MANE Select	NP_000456.2:p.Val644Gly
NM_001282543.2:c.1874T>G	NP_001269472.1:p.Val625Gly
NM_001282545.2:c.578T>G	NP_001269474.1:p.Val193Gly
NM_001282548.2:c.521T>G	NP_001269477.1:p.Val174Gly
NM_001282549.2:c.392T>G	NP_001269478.1:p.Val131Gly
NR_104212.2:n.1896T>G
NR_104215.2:n.1839T>G
NR_104216.2:n.1095T>G