Canonical Allele Identifier: CA350457459

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215646071T>A (hg19) ; chr2:g.214781347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781347T>A , CM000664.2:g.214781347T>A	GRCh38
NC_000002.11:g.215646071T>A , CM000664.1:g.215646071T>A	GRCh37
NC_000002.10:g.215354316T>A	NCBI36
NG_012047.2:g.33358A>T
NG_012047.3:g.33365A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.527A>T MANE Select	ENSP00000260947.4:p.Gln176Leu
ENST00000421162.2:c.215+15714A>T	ENSP00000392245.2:n.215+15714A>T
ENST00000613192.2:c.158+28065A>T	ENSP00000483275.2:n.158+28065A>T
ENST00000613374.5:c.158+28065A>T	ENSP00000484464.1:n.158+28065A>T
ENST00000613706.5:c.527A>T	ENSP00000484976.2:p.Gln176Leu
ENST00000617164.5:c.470A>T	ENSP00000480470.1:p.Gln157Leu
ENST00000619009.5:c.364+10950A>T	ENSP00000482293.1:n.364+10950A>T
ENST00000650978.1:c.369A>T
ENST00000260947.8:c.527A>T	ENSP00000260947.4:p.Gln176Leu
ENST00000421162.1:c.215+15714A>T	ENSP00000392245.1:n.215+15714A>T
ENST00000455743.5:c.*147A>T	ENSP00000412186.1:n.*147A>T
ENST00000471787.1:n.422A>T
ENST00000613192.1:c.73+28065A>T	ENSP00000483275.1:n.73+28065A>T
ENST00000613374.4:c.158+28065A>T	ENSP00000484464.1:n.158+28065A>T
ENST00000613706.4:c.215+15714A>T	ENSP00000484976.1:n.215+15714A>T
ENST00000617164.4:c.470A>T	ENSP00000480470.1:p.Gln157Leu
ENST00000619009.4:c.364+10950A>T	ENSP00000482293.1:n.364+10950A>T
ENST00000620057.4:c.364+10950A>T	ENSP00000481988.1:n.364+10950A>T
NM_000465.3:c.527A>T	NP_000456.2:p.Gln176Leu
NM_001282543.1:c.470A>T	NP_001269472.1:p.Gln157Leu
NM_001282545.1:c.215+15714A>T	NP_001269474.1:n.215+15714A>T
NM_001282548.1:c.158+28065A>T	NP_001269477.1:n.158+28065A>T
NM_001282549.1:c.364+10950A>T	NP_001269478.1:n.364+10950A>T
NR_104212.1:n.520A>T
NR_104215.1:n.463A>T
NR_104216.1:n.506+10950A>T
XM_011511567.1:c.473A>T	XP_011509869.1:p.Gln158Leu
XM_011511568.1:c.527A>T	XP_011509870.1:p.Gln176Leu
XM_017004613.1:c.626A>T	XP_016860102.1:p.Gln209Leu
XM_017004614.1:c.626A>T	XP_016860103.1:p.Gln209Leu
XR_002959322.1:n.717A>T
NM_000465.4:c.527A>T MANE Select	NP_000456.2:p.Gln176Leu
NM_001282543.2:c.470A>T	NP_001269472.1:p.Gln157Leu
NM_001282545.2:c.215+15714A>T	NP_001269474.1:n.215+15714A>T
NM_001282548.2:c.158+28065A>T	NP_001269477.1:n.158+28065A>T
NM_001282549.2:c.364+10950A>T	NP_001269478.1:n.364+10950A>T
NR_104212.2:n.492A>T
NR_104215.2:n.435A>T
NR_104216.2:n.478+10950A>T