Canonical Allele Identifier: CA350451164

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595181T>A (hg19) ; chr2:g.214730457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730457T>A , CM000664.2:g.214730457T>A	GRCh38
NC_000002.11:g.215595181T>A , CM000664.1:g.215595181T>A	GRCh37
NC_000002.10:g.215303426T>A	NCBI36
NG_012047.2:g.84248A>T
NG_012047.3:g.84255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1955A>T MANE Select	ENSP00000260947.4:p.Glu652Val
ENST00000421162.2:c.602A>T	ENSP00000392245.2:p.Glu201Val
ENST00000613192.2:c.*18A>T	ENSP00000483275.2:n.*18A>T
ENST00000613374.5:c.545A>T	ENSP00000484464.1:p.Glu182Val
ENST00000613706.5:c.1547A>T	ENSP00000484976.2:p.Glu516Val
ENST00000617164.5:c.1898A>T	ENSP00000480470.1:p.Glu633Val
ENST00000619009.5:c.416A>T	ENSP00000482293.1:p.Glu139Val
ENST00000650978.1:c.3330A>T
ENST00000260947.8:c.1955A>T	ENSP00000260947.4:p.Glu652Val
ENST00000421162.1:c.602A>T	ENSP00000392245.1:p.Glu201Val
ENST00000432456.5:c.52A>T
ENST00000455743.5:c.*1575A>T	ENSP00000412186.1:n.*1575A>T
ENST00000471590.5:n.290A>T
ENST00000613192.1:c.125A>T	ENSP00000483275.1:p.Glu42Val
ENST00000613374.4:c.545A>T	ENSP00000484464.1:p.Glu182Val
ENST00000613706.4:c.602A>T	ENSP00000484976.1:p.Glu201Val
ENST00000617164.4:c.1898A>T	ENSP00000480470.1:p.Glu633Val
ENST00000619009.4:c.416A>T	ENSP00000482293.1:p.Glu139Val
ENST00000620057.4:c.*621A>T	ENSP00000481988.1:n.*621A>T
NM_000465.3:c.1955A>T	NP_000456.2:p.Glu652Val
NM_001282543.1:c.1898A>T	NP_001269472.1:p.Glu633Val
NM_001282545.1:c.602A>T	NP_001269474.1:p.Glu201Val
NM_001282548.1:c.545A>T	NP_001269477.1:p.Glu182Val
NM_001282549.1:c.416A>T	NP_001269478.1:p.Glu139Val
NR_104212.1:n.1948A>T
NR_104215.1:n.1891A>T
NR_104216.1:n.1147A>T
XM_011511567.1:c.1901A>T	XP_011509869.1:p.Glu634Val
XM_017004613.1:c.2054A>T	XP_016860102.1:p.Glu685Val
XR_002959322.1:n.2145A>T
NM_000465.4:c.1955A>T MANE Select	NP_000456.2:p.Glu652Val
NM_001282543.2:c.1898A>T	NP_001269472.1:p.Glu633Val
NM_001282545.2:c.602A>T	NP_001269474.1:p.Glu201Val
NM_001282548.2:c.545A>T	NP_001269477.1:p.Glu182Val
NM_001282549.2:c.416A>T	NP_001269478.1:p.Glu139Val
NR_104212.2:n.1920A>T
NR_104215.2:n.1863A>T
NR_104216.2:n.1119A>T