Canonical Allele Identifier: CA350451167

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595182C>G (hg19) ; chr2:g.214730458C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1954G>C MANE Select	ENSP00000260947.4:p.Glu652Gln
ENST00000421162.2:c.601G>C	ENSP00000392245.2:p.Glu201Gln
ENST00000613192.2:c.*17G>C	ENSP00000483275.2:n.*17G>C
ENST00000613374.5:c.544G>C	ENSP00000484464.1:p.Glu182Gln
ENST00000613706.5:c.1546G>C	ENSP00000484976.2:p.Glu516Gln
ENST00000617164.5:c.1897G>C	ENSP00000480470.1:p.Glu633Gln
ENST00000619009.5:c.415G>C	ENSP00000482293.1:p.Glu139Gln
ENST00000650978.1:c.3329G>C
ENST00000260947.8:c.1954G>C	ENSP00000260947.4:p.Glu652Gln
ENST00000421162.1:c.601G>C	ENSP00000392245.1:p.Glu201Gln
ENST00000432456.5:c.51G>C
ENST00000455743.5:c.*1574G>C	ENSP00000412186.1:n.*1574G>C
ENST00000471590.5:n.289G>C
ENST00000613192.1:c.124G>C	ENSP00000483275.1:p.Glu42Gln
ENST00000613374.4:c.544G>C	ENSP00000484464.1:p.Glu182Gln
ENST00000613706.4:c.601G>C	ENSP00000484976.1:p.Glu201Gln
ENST00000617164.4:c.1897G>C	ENSP00000480470.1:p.Glu633Gln
ENST00000619009.4:c.415G>C	ENSP00000482293.1:p.Glu139Gln
ENST00000620057.4:c.*620G>C	ENSP00000481988.1:n.*620G>C
NM_000465.3:c.1954G>C	NP_000456.2:p.Glu652Gln
NM_001282543.1:c.1897G>C	NP_001269472.1:p.Glu633Gln
NM_001282545.1:c.601G>C	NP_001269474.1:p.Glu201Gln
NM_001282548.1:c.544G>C	NP_001269477.1:p.Glu182Gln
NM_001282549.1:c.415G>C	NP_001269478.1:p.Glu139Gln
NR_104212.1:n.1947G>C
NR_104215.1:n.1890G>C
NR_104216.1:n.1146G>C
XM_011511567.1:c.1900G>C	XP_011509869.1:p.Glu634Gln
XM_017004613.1:c.2053G>C	XP_016860102.1:p.Glu685Gln
XR_002959322.1:n.2144G>C
NM_000465.4:c.1954G>C MANE Select	NP_000456.2:p.Glu652Gln
NM_001282543.2:c.1897G>C	NP_001269472.1:p.Glu633Gln
NM_001282545.2:c.601G>C	NP_001269474.1:p.Glu201Gln
NM_001282548.2:c.544G>C	NP_001269477.1:p.Glu182Gln
NM_001282549.2:c.415G>C	NP_001269478.1:p.Glu139Gln
NR_104212.2:n.1919G>C
NR_104215.2:n.1862G>C
NR_104216.2:n.1118G>C