Canonical Allele Identifier: CA350454266

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645568T>A (hg19) ; chr2:g.214780844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780844T>A , CM000664.2:g.214780844T>A	GRCh38
NC_000002.11:g.215645568T>A , CM000664.1:g.215645568T>A	GRCh37
NC_000002.10:g.215353813T>A	NCBI36
NG_012047.2:g.33861A>T
NG_012047.3:g.33868A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1030A>T MANE Select	ENSP00000260947.4:p.Ser344Cys
ENST00000421162.2:c.215+16217A>T	ENSP00000392245.2:n.215+16217A>T
ENST00000613192.2:c.158+28568A>T	ENSP00000483275.2:n.158+28568A>T
ENST00000613374.5:c.159-28289A>T	ENSP00000484464.1:n.159-28289A>T
ENST00000613706.5:c.906+124A>T	ENSP00000484976.2:n.906+124A>T
ENST00000617164.5:c.973A>T	ENSP00000480470.1:p.Ser325Cys
ENST00000619009.5:c.364+11453A>T	ENSP00000482293.1:n.364+11453A>T
ENST00000650978.1:c.872A>T
ENST00000260947.8:c.1030A>T	ENSP00000260947.4:p.Ser344Cys
ENST00000421162.1:c.215+16217A>T	ENSP00000392245.1:n.215+16217A>T
ENST00000455743.5:c.*650A>T	ENSP00000412186.1:n.*650A>T
ENST00000613192.1:c.73+28568A>T	ENSP00000483275.1:n.73+28568A>T
ENST00000613374.4:c.159-28289A>T	ENSP00000484464.1:n.159-28289A>T
ENST00000613706.4:c.215+16217A>T	ENSP00000484976.1:n.215+16217A>T
ENST00000617164.4:c.973A>T	ENSP00000480470.1:p.Ser325Cys
ENST00000619009.4:c.364+11453A>T	ENSP00000482293.1:n.364+11453A>T
ENST00000620057.4:c.364+11453A>T	ENSP00000481988.1:n.364+11453A>T
NM_000465.3:c.1030A>T	NP_000456.2:p.Ser344Cys
NM_001282543.1:c.973A>T	NP_001269472.1:p.Ser325Cys
NM_001282545.1:c.215+16217A>T	NP_001269474.1:n.215+16217A>T
NM_001282548.1:c.159-28289A>T	NP_001269477.1:n.159-28289A>T
NM_001282549.1:c.364+11453A>T	NP_001269478.1:n.364+11453A>T
NR_104212.1:n.1023A>T
NR_104215.1:n.966A>T
NR_104216.1:n.506+11453A>T
XM_011511567.1:c.976A>T	XP_011509869.1:p.Ser326Cys
XM_011511568.1:c.1030A>T	XP_011509870.1:p.Ser344Cys
XM_017004613.1:c.1129A>T	XP_016860102.1:p.Ser377Cys
XM_017004614.1:c.1129A>T	XP_016860103.1:p.Ser377Cys
XR_002959322.1:n.1220A>T
NM_000465.4:c.1030A>T MANE Select	NP_000456.2:p.Ser344Cys
NM_001282543.2:c.973A>T	NP_001269472.1:p.Ser325Cys
NM_001282545.2:c.215+16217A>T	NP_001269474.1:n.215+16217A>T
NM_001282548.2:c.159-28289A>T	NP_001269477.1:n.159-28289A>T
NM_001282549.2:c.364+11453A>T	NP_001269478.1:n.364+11453A>T
NR_104212.2:n.995A>T
NR_104215.2:n.938A>T
NR_104216.2:n.478+11453A>T