Canonical Allele Identifier: CA350451105

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595146T>A (hg19) ; chr2:g.214730422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730422T>A , CM000664.2:g.214730422T>A	GRCh38
NC_000002.11:g.215595146T>A , CM000664.1:g.215595146T>A	GRCh37
NC_000002.10:g.215303391T>A	NCBI36
NG_012047.2:g.84283A>T
NG_012047.3:g.84290A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1990A>T MANE Select	ENSP00000260947.4:p.Arg664Ter
ENST00000421162.2:c.637A>T	ENSP00000392245.2:p.Arg213Ter
ENST00000613192.2:c.*53A>T	ENSP00000483275.2:n.*53A>T
ENST00000613374.5:c.580A>T	ENSP00000484464.1:p.Arg194Ter
ENST00000613706.5:c.1582A>T	ENSP00000484976.2:p.Arg528Ter
ENST00000617164.5:c.1933A>T	ENSP00000480470.1:p.Arg645Ter
ENST00000619009.5:c.451A>T	ENSP00000482293.1:p.Arg151Ter
ENST00000650978.1:c.3365A>T
ENST00000260947.8:c.1990A>T	ENSP00000260947.4:p.Arg664Ter
ENST00000421162.1:c.637A>T	ENSP00000392245.1:p.Arg213Ter
ENST00000432456.5:c.87A>T
ENST00000455743.5:c.*1610A>T	ENSP00000412186.1:n.*1610A>T
ENST00000471590.5:n.325A>T
ENST00000613192.1:c.160A>T	ENSP00000483275.1:p.Arg54Ter
ENST00000613374.4:c.580A>T	ENSP00000484464.1:p.Arg194Ter
ENST00000613706.4:c.637A>T	ENSP00000484976.1:p.Arg213Ter
ENST00000617164.4:c.1933A>T	ENSP00000480470.1:p.Arg645Ter
ENST00000619009.4:c.451A>T	ENSP00000482293.1:p.Arg151Ter
ENST00000620057.4:c.*656A>T	ENSP00000481988.1:n.*656A>T
NM_000465.3:c.1990A>T	NP_000456.2:p.Arg664Ter
NM_001282543.1:c.1933A>T	NP_001269472.1:p.Arg645Ter
NM_001282545.1:c.637A>T	NP_001269474.1:p.Arg213Ter
NM_001282548.1:c.580A>T	NP_001269477.1:p.Arg194Ter
NM_001282549.1:c.451A>T	NP_001269478.1:p.Arg151Ter
NR_104212.1:n.1983A>T
NR_104215.1:n.1926A>T
NR_104216.1:n.1182A>T
XM_011511567.1:c.1936A>T	XP_011509869.1:p.Arg646Ter
XM_017004613.1:c.2089A>T	XP_016860102.1:p.Arg697Ter
XR_002959322.1:n.2180A>T
NM_000465.4:c.1990A>T MANE Select	NP_000456.2:p.Arg664Ter
NM_001282543.2:c.1933A>T	NP_001269472.1:p.Arg645Ter
NM_001282545.2:c.637A>T	NP_001269474.1:p.Arg213Ter
NM_001282548.2:c.580A>T	NP_001269477.1:p.Arg194Ter
NM_001282549.2:c.451A>T	NP_001269478.1:p.Arg151Ter
NR_104212.2:n.1955A>T
NR_104215.2:n.1898A>T
NR_104216.2:n.1154A>T