Canonical Allele Identifier: CA431138977

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595135C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730411C>G , CM000664.2:g.214730411C>G	GRCh38
NC_000002.11:g.215595135C>G , CM000664.1:g.215595135C>G	GRCh37
NC_000002.10:g.215303380C>G	NCBI36
NG_012047.2:g.84294G>C
NG_012047.3:g.84301G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001G>C MANE Select	ENSP00000260947.4:p.Leu667=
ENST00000421162.2:c.648G>C	ENSP00000392245.2:p.Leu216=
ENST00000613192.2:c.*64G>C	ENSP00000483275.2:n.*64G>C
ENST00000613374.5:c.591G>C	ENSP00000484464.1:p.Leu197=
ENST00000613706.5:c.1593G>C	ENSP00000484976.2:p.Leu531=
ENST00000617164.5:c.1944G>C	ENSP00000480470.1:p.Leu648=
ENST00000619009.5:c.462G>C	ENSP00000482293.1:p.Leu154=
ENST00000650978.1:c.3376G>C
ENST00000260947.8:c.2001G>C	ENSP00000260947.4:p.Leu667=
ENST00000421162.1:c.648G>C	ENSP00000392245.1:p.Leu216=
ENST00000432456.5:c.98G>C
ENST00000455743.5:c.*1621G>C	ENSP00000412186.1:n.*1621G>C
ENST00000471590.5:n.336G>C
ENST00000613192.1:c.171G>C	ENSP00000483275.1:p.Leu57=
ENST00000613374.4:c.591G>C	ENSP00000484464.1:p.Leu197=
ENST00000613706.4:c.648G>C	ENSP00000484976.1:p.Leu216=
ENST00000617164.4:c.1944G>C	ENSP00000480470.1:p.Leu648=
ENST00000619009.4:c.462G>C	ENSP00000482293.1:p.Leu154=
ENST00000620057.4:c.*667G>C	ENSP00000481988.1:n.*667G>C
NM_000465.3:c.2001G>C	NP_000456.2:p.Leu667=
NM_001282543.1:c.1944G>C	NP_001269472.1:p.Leu648=
NM_001282545.1:c.648G>C	NP_001269474.1:p.Leu216=
NM_001282548.1:c.591G>C	NP_001269477.1:p.Leu197=
NM_001282549.1:c.462G>C	NP_001269478.1:p.Leu154=
NR_104212.1:n.1994G>C
NR_104215.1:n.1937G>C
NR_104216.1:n.1193G>C
XM_011511567.1:c.1947G>C	XP_011509869.1:p.Leu649=
XM_017004613.1:c.2100G>C	XP_016860102.1:p.Leu700=
XR_002959322.1:n.2191G>C
NM_000465.4:c.2001G>C MANE Select	NP_000456.2:p.Leu667=
NM_001282543.2:c.1944G>C	NP_001269472.1:p.Leu648=
NM_001282545.2:c.648G>C	NP_001269474.1:p.Leu216=
NM_001282548.2:c.591G>C	NP_001269477.1:p.Leu197=
NM_001282549.2:c.462G>C	NP_001269478.1:p.Leu154=
NR_104212.2:n.1966G>C
NR_104215.2:n.1909G>C
NR_104216.2:n.1165G>C