Canonical Allele Identifier: CA350449911

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593451G>C (hg19) ; chr2:g.214728727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728727G>C , CM000664.2:g.214728727G>C	GRCh38
NC_000002.11:g.215593451G>C , CM000664.1:g.215593451G>C	GRCh37
NC_000002.10:g.215301696G>C	NCBI36
NG_012047.2:g.85978C>G
NG_012047.3:g.85985C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2283C>G MANE Select	ENSP00000260947.4:p.Ser761Arg
ENST00000421162.2:c.930C>G	ENSP00000392245.2:p.Ser310Arg
ENST00000613192.2:c.*346C>G	ENSP00000483275.2:n.*346C>G
ENST00000613374.5:c.873C>G	ENSP00000484464.1:p.Ser291Arg
ENST00000613706.5:c.1875C>G	ENSP00000484976.2:p.Ser625Arg
ENST00000617164.5:c.2226C>G	ENSP00000480470.1:p.Ser742Arg
ENST00000619009.5:c.744C>G	ENSP00000482293.1:p.Ser248Arg
ENST00000650978.1:c.3658C>G
ENST00000260947.8:c.2283C>G	ENSP00000260947.4:p.Ser761Arg
ENST00000432456.5:c.426C>G
ENST00000455743.5:c.*1903C>G	ENSP00000412186.1:n.*1903C>G
ENST00000471590.5:n.618C>G
ENST00000613192.1:c.453C>G	ENSP00000483275.1:p.Ser151Arg
ENST00000613374.4:c.873C>G	ENSP00000484464.1:p.Ser291Arg
ENST00000613706.4:c.930C>G	ENSP00000484976.1:p.Ser310Arg
ENST00000617164.4:c.2226C>G	ENSP00000480470.1:p.Ser742Arg
ENST00000619009.4:c.744C>G	ENSP00000482293.1:p.Ser248Arg
ENST00000620057.4:c.*949C>G	ENSP00000481988.1:n.*949C>G
NM_000465.3:c.2283C>G	NP_000456.2:p.Ser761Arg
NM_001282543.1:c.2226C>G	NP_001269472.1:p.Ser742Arg
NM_001282545.1:c.930C>G	NP_001269474.1:p.Ser310Arg
NM_001282548.1:c.873C>G	NP_001269477.1:p.Ser291Arg
NM_001282549.1:c.744C>G	NP_001269478.1:p.Ser248Arg
NR_104212.1:n.2276C>G
NR_104215.1:n.2219C>G
NR_104216.1:n.1475C>G
XM_011511567.1:c.2229C>G	XP_011509869.1:p.Ser743Arg
XM_017004613.1:c.2382C>G	XP_016860102.1:p.Ser794Arg
XR_002959322.1:n.2649C>G
NM_000465.4:c.2283C>G MANE Select	NP_000456.2:p.Ser761Arg
NM_001282543.2:c.2226C>G	NP_001269472.1:p.Ser742Arg
NM_001282545.2:c.930C>G	NP_001269474.1:p.Ser310Arg
NM_001282548.2:c.873C>G	NP_001269477.1:p.Ser291Arg
NM_001282549.2:c.744C>G	NP_001269478.1:p.Ser248Arg
NR_104212.2:n.2248C>G
NR_104215.2:n.2191C>G
NR_104216.2:n.1447C>G