Canonical Allele Identifier: CA350451197

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479157
• ClinVar RCV Id: RCV000567930
• dbSNP Id: rs1553612519
• MyVariant Identifiers: chr2:g.215595193T>G (hg19) ; chr2:g.214730469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730469T>G , CM000664.2:g.214730469T>G	GRCh38
NC_000002.11:g.215595193T>G , CM000664.1:g.215595193T>G	GRCh37
NC_000002.10:g.215303438T>G	NCBI36
NG_012047.2:g.84236A>C
NG_012047.3:g.84243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1943A>C MANE Select	ENSP00000260947.4:p.Glu648Ala
ENST00000421162.2:c.590A>C	ENSP00000392245.2:p.Glu197Ala
ENST00000613192.2:c.*6A>C	ENSP00000483275.2:n.*6A>C
ENST00000613374.5:c.533A>C	ENSP00000484464.1:p.Glu178Ala
ENST00000613706.5:c.1535A>C	ENSP00000484976.2:p.Glu512Ala
ENST00000617164.5:c.1886A>C	ENSP00000480470.1:p.Glu629Ala
ENST00000619009.5:c.404A>C	ENSP00000482293.1:p.Glu135Ala
ENST00000650978.1:c.3318A>C
ENST00000260947.8:c.1943A>C	ENSP00000260947.4:p.Glu648Ala
ENST00000421162.1:c.590A>C	ENSP00000392245.1:p.Glu197Ala
ENST00000432456.5:c.40A>C
ENST00000455743.5:c.*1563A>C	ENSP00000412186.1:n.*1563A>C
ENST00000471590.5:n.278A>C
ENST00000613192.1:c.113A>C	ENSP00000483275.1:p.Glu38Ala
ENST00000613374.4:c.533A>C	ENSP00000484464.1:p.Glu178Ala
ENST00000613706.4:c.590A>C	ENSP00000484976.1:p.Glu197Ala
ENST00000617164.4:c.1886A>C	ENSP00000480470.1:p.Glu629Ala
ENST00000619009.4:c.404A>C	ENSP00000482293.1:p.Glu135Ala
ENST00000620057.4:c.*609A>C	ENSP00000481988.1:n.*609A>C
NM_000465.3:c.1943A>C	NP_000456.2:p.Glu648Ala
NM_001282543.1:c.1886A>C	NP_001269472.1:p.Glu629Ala
NM_001282545.1:c.590A>C	NP_001269474.1:p.Glu197Ala
NM_001282548.1:c.533A>C	NP_001269477.1:p.Glu178Ala
NM_001282549.1:c.404A>C	NP_001269478.1:p.Glu135Ala
NR_104212.1:n.1936A>C
NR_104215.1:n.1879A>C
NR_104216.1:n.1135A>C
XM_011511567.1:c.1889A>C	XP_011509869.1:p.Glu630Ala
XM_017004613.1:c.2042A>C	XP_016860102.1:p.Glu681Ala
XR_002959322.1:n.2133A>C
NM_000465.4:c.1943A>C MANE Select	NP_000456.2:p.Glu648Ala
NM_001282543.2:c.1886A>C	NP_001269472.1:p.Glu629Ala
NM_001282545.2:c.590A>C	NP_001269474.1:p.Glu197Ala
NM_001282548.2:c.533A>C	NP_001269477.1:p.Glu178Ala
NM_001282549.2:c.404A>C	NP_001269478.1:p.Glu135Ala
NR_104212.2:n.1908A>C
NR_104215.2:n.1851A>C
NR_104216.2:n.1107A>C