Canonical Allele Identifier: CA350451166

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1355072
• ClinVar RCV Id: RCV001866736
• dbSNP Id: rs2105990642
• MyVariant Identifiers: chr2:g.215595182C>T (hg19) ; chr2:g.214730458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730458C>T , CM000664.2:g.214730458C>T	GRCh38
NC_000002.11:g.215595182C>T , CM000664.1:g.215595182C>T	GRCh37
NC_000002.10:g.215303427C>T	NCBI36
NG_012047.2:g.84247G>A
NG_012047.3:g.84254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1954G>A MANE Select	ENSP00000260947.4:p.Glu652Lys
ENST00000421162.2:c.601G>A	ENSP00000392245.2:p.Glu201Lys
ENST00000613192.2:c.*17G>A	ENSP00000483275.2:n.*17G>A
ENST00000613374.5:c.544G>A	ENSP00000484464.1:p.Glu182Lys
ENST00000613706.5:c.1546G>A	ENSP00000484976.2:p.Glu516Lys
ENST00000617164.5:c.1897G>A	ENSP00000480470.1:p.Glu633Lys
ENST00000619009.5:c.415G>A	ENSP00000482293.1:p.Glu139Lys
ENST00000650978.1:c.3329G>A
ENST00000260947.8:c.1954G>A	ENSP00000260947.4:p.Glu652Lys
ENST00000421162.1:c.601G>A	ENSP00000392245.1:p.Glu201Lys
ENST00000432456.5:c.51G>A
ENST00000455743.5:c.*1574G>A	ENSP00000412186.1:n.*1574G>A
ENST00000471590.5:n.289G>A
ENST00000613192.1:c.124G>A	ENSP00000483275.1:p.Glu42Lys
ENST00000613374.4:c.544G>A	ENSP00000484464.1:p.Glu182Lys
ENST00000613706.4:c.601G>A	ENSP00000484976.1:p.Glu201Lys
ENST00000617164.4:c.1897G>A	ENSP00000480470.1:p.Glu633Lys
ENST00000619009.4:c.415G>A	ENSP00000482293.1:p.Glu139Lys
ENST00000620057.4:c.*620G>A	ENSP00000481988.1:n.*620G>A
NM_000465.3:c.1954G>A	NP_000456.2:p.Glu652Lys
NM_001282543.1:c.1897G>A	NP_001269472.1:p.Glu633Lys
NM_001282545.1:c.601G>A	NP_001269474.1:p.Glu201Lys
NM_001282548.1:c.544G>A	NP_001269477.1:p.Glu182Lys
NM_001282549.1:c.415G>A	NP_001269478.1:p.Glu139Lys
NR_104212.1:n.1947G>A
NR_104215.1:n.1890G>A
NR_104216.1:n.1146G>A
XM_011511567.1:c.1900G>A	XP_011509869.1:p.Glu634Lys
XM_017004613.1:c.2053G>A	XP_016860102.1:p.Glu685Lys
XR_002959322.1:n.2144G>A
NM_000465.4:c.1954G>A MANE Select	NP_000456.2:p.Glu652Lys
NM_001282543.2:c.1897G>A	NP_001269472.1:p.Glu633Lys
NM_001282545.2:c.601G>A	NP_001269474.1:p.Glu201Lys
NM_001282548.2:c.544G>A	NP_001269477.1:p.Glu182Lys
NM_001282549.2:c.415G>A	NP_001269478.1:p.Glu139Lys
NR_104212.2:n.1919G>A
NR_104215.2:n.1862G>A
NR_104216.2:n.1118G>A