Canonical Allele Identifier: CA350451184

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595189T>G (hg19) ; chr2:g.214730465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730465T>G , CM000664.2:g.214730465T>G	GRCh38
NC_000002.11:g.215595189T>G , CM000664.1:g.215595189T>G	GRCh37
NC_000002.10:g.215303434T>G	NCBI36
NG_012047.2:g.84240A>C
NG_012047.3:g.84247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1947A>C MANE Select	ENSP00000260947.4:p.Glu649Asp
ENST00000421162.2:c.594A>C	ENSP00000392245.2:p.Glu198Asp
ENST00000613192.2:c.*10A>C	ENSP00000483275.2:n.*10A>C
ENST00000613374.5:c.537A>C	ENSP00000484464.1:p.Glu179Asp
ENST00000613706.5:c.1539A>C	ENSP00000484976.2:p.Glu513Asp
ENST00000617164.5:c.1890A>C	ENSP00000480470.1:p.Glu630Asp
ENST00000619009.5:c.408A>C	ENSP00000482293.1:p.Glu136Asp
ENST00000650978.1:c.3322A>C
ENST00000260947.8:c.1947A>C	ENSP00000260947.4:p.Glu649Asp
ENST00000421162.1:c.594A>C	ENSP00000392245.1:p.Glu198Asp
ENST00000432456.5:c.44A>C
ENST00000455743.5:c.*1567A>C	ENSP00000412186.1:n.*1567A>C
ENST00000471590.5:n.282A>C
ENST00000613192.1:c.117A>C	ENSP00000483275.1:p.Glu39Asp
ENST00000613374.4:c.537A>C	ENSP00000484464.1:p.Glu179Asp
ENST00000613706.4:c.594A>C	ENSP00000484976.1:p.Glu198Asp
ENST00000617164.4:c.1890A>C	ENSP00000480470.1:p.Glu630Asp
ENST00000619009.4:c.408A>C	ENSP00000482293.1:p.Glu136Asp
ENST00000620057.4:c.*613A>C	ENSP00000481988.1:n.*613A>C
NM_000465.3:c.1947A>C	NP_000456.2:p.Glu649Asp
NM_001282543.1:c.1890A>C	NP_001269472.1:p.Glu630Asp
NM_001282545.1:c.594A>C	NP_001269474.1:p.Glu198Asp
NM_001282548.1:c.537A>C	NP_001269477.1:p.Glu179Asp
NM_001282549.1:c.408A>C	NP_001269478.1:p.Glu136Asp
NR_104212.1:n.1940A>C
NR_104215.1:n.1883A>C
NR_104216.1:n.1139A>C
XM_011511567.1:c.1893A>C	XP_011509869.1:p.Glu631Asp
XM_017004613.1:c.2046A>C	XP_016860102.1:p.Glu682Asp
XR_002959322.1:n.2137A>C
NM_000465.4:c.1947A>C MANE Select	NP_000456.2:p.Glu649Asp
NM_001282543.2:c.1890A>C	NP_001269472.1:p.Glu630Asp
NM_001282545.2:c.594A>C	NP_001269474.1:p.Glu198Asp
NM_001282548.2:c.537A>C	NP_001269477.1:p.Glu179Asp
NM_001282549.2:c.408A>C	NP_001269478.1:p.Glu136Asp
NR_104212.2:n.1912A>C
NR_104215.2:n.1855A>C
NR_104216.2:n.1111A>C