Canonical Allele Identifier: CA431139644

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595213T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730489T>G , CM000664.2:g.214730489T>G	GRCh38
NC_000002.11:g.215595213T>G , CM000664.1:g.215595213T>G	GRCh37
NC_000002.10:g.215303458T>G	NCBI36
NG_012047.2:g.84216A>C
NG_012047.3:g.84223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1923A>C MANE Select	ENSP00000260947.4:p.Arg641=
ENST00000421162.2:c.570A>C	ENSP00000392245.2:p.Arg190=
ENST00000613192.2:c.178A>C	ENSP00000483275.2:p.Lys60Gln
ENST00000613374.5:c.513A>C	ENSP00000484464.1:p.Arg171=
ENST00000613706.5:c.1515A>C	ENSP00000484976.2:p.Arg505=
ENST00000617164.5:c.1866A>C	ENSP00000480470.1:p.Arg622=
ENST00000619009.5:c.384A>C	ENSP00000482293.1:p.Arg128=
ENST00000650978.1:c.3298A>C
ENST00000260947.8:c.1923A>C	ENSP00000260947.4:p.Arg641=
ENST00000421162.1:c.570A>C	ENSP00000392245.1:p.Arg190=
ENST00000432456.5:c.20A>C
ENST00000455743.5:c.*1543A>C	ENSP00000412186.1:n.*1543A>C
ENST00000471590.5:n.258A>C
ENST00000613192.1:c.93A>C	ENSP00000483275.1:p.Arg31=
ENST00000613374.4:c.513A>C	ENSP00000484464.1:p.Arg171=
ENST00000613706.4:c.570A>C	ENSP00000484976.1:p.Arg190=
ENST00000617164.4:c.1866A>C	ENSP00000480470.1:p.Arg622=
ENST00000619009.4:c.384A>C	ENSP00000482293.1:p.Arg128=
ENST00000620057.4:c.*589A>C	ENSP00000481988.1:n.*589A>C
NM_000465.3:c.1923A>C	NP_000456.2:p.Arg641=
NM_001282543.1:c.1866A>C	NP_001269472.1:p.Arg622=
NM_001282545.1:c.570A>C	NP_001269474.1:p.Arg190=
NM_001282548.1:c.513A>C	NP_001269477.1:p.Arg171=
NM_001282549.1:c.384A>C	NP_001269478.1:p.Arg128=
NR_104212.1:n.1916A>C
NR_104215.1:n.1859A>C
NR_104216.1:n.1115A>C
XM_011511567.1:c.1869A>C	XP_011509869.1:p.Arg623=
XM_017004613.1:c.2022A>C	XP_016860102.1:p.Arg674=
XR_002959322.1:n.2113A>C
NM_000465.4:c.1923A>C MANE Select	NP_000456.2:p.Arg641=
NM_001282543.2:c.1866A>C	NP_001269472.1:p.Arg622=
NM_001282545.2:c.570A>C	NP_001269474.1:p.Arg190=
NM_001282548.2:c.513A>C	NP_001269477.1:p.Arg171=
NM_001282549.2:c.384A>C	NP_001269478.1:p.Arg128=
NR_104212.2:n.1888A>C
NR_104215.2:n.1831A>C
NR_104216.2:n.1087A>C