Canonical Allele Identifier: CA431139303

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595180T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730456T>C , CM000664.2:g.214730456T>C	GRCh38
NC_000002.11:g.215595180T>C , CM000664.1:g.215595180T>C	GRCh37
NC_000002.10:g.215303425T>C	NCBI36
NG_012047.2:g.84249A>G
NG_012047.3:g.84256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1956A>G MANE Select	ENSP00000260947.4:p.Glu652=
ENST00000421162.2:c.603A>G	ENSP00000392245.2:p.Glu201=
ENST00000613192.2:c.*19A>G	ENSP00000483275.2:n.*19A>G
ENST00000613374.5:c.546A>G	ENSP00000484464.1:p.Glu182=
ENST00000613706.5:c.1548A>G	ENSP00000484976.2:p.Glu516=
ENST00000617164.5:c.1899A>G	ENSP00000480470.1:p.Glu633=
ENST00000619009.5:c.417A>G	ENSP00000482293.1:p.Glu139=
ENST00000650978.1:c.3331A>G
ENST00000260947.8:c.1956A>G	ENSP00000260947.4:p.Glu652=
ENST00000421162.1:c.603A>G	ENSP00000392245.1:p.Glu201=
ENST00000432456.5:c.53A>G
ENST00000455743.5:c.*1576A>G	ENSP00000412186.1:n.*1576A>G
ENST00000471590.5:n.291A>G
ENST00000613192.1:c.126A>G	ENSP00000483275.1:p.Glu42=
ENST00000613374.4:c.546A>G	ENSP00000484464.1:p.Glu182=
ENST00000613706.4:c.603A>G	ENSP00000484976.1:p.Glu201=
ENST00000617164.4:c.1899A>G	ENSP00000480470.1:p.Glu633=
ENST00000619009.4:c.417A>G	ENSP00000482293.1:p.Glu139=
ENST00000620057.4:c.*622A>G	ENSP00000481988.1:n.*622A>G
NM_000465.3:c.1956A>G	NP_000456.2:p.Glu652=
NM_001282543.1:c.1899A>G	NP_001269472.1:p.Glu633=
NM_001282545.1:c.603A>G	NP_001269474.1:p.Glu201=
NM_001282548.1:c.546A>G	NP_001269477.1:p.Glu182=
NM_001282549.1:c.417A>G	NP_001269478.1:p.Glu139=
NR_104212.1:n.1949A>G
NR_104215.1:n.1892A>G
NR_104216.1:n.1148A>G
XM_011511567.1:c.1902A>G	XP_011509869.1:p.Glu634=
XM_017004613.1:c.2055A>G	XP_016860102.1:p.Glu685=
XR_002959322.1:n.2146A>G
NM_000465.4:c.1956A>G MANE Select	NP_000456.2:p.Glu652=
NM_001282543.2:c.1899A>G	NP_001269472.1:p.Glu633=
NM_001282545.2:c.603A>G	NP_001269474.1:p.Glu201=
NM_001282548.2:c.546A>G	NP_001269477.1:p.Glu182=
NM_001282549.2:c.417A>G	NP_001269478.1:p.Glu139=
NR_104212.2:n.1921A>G
NR_104215.2:n.1864A>G
NR_104216.2:n.1120A>G