Canonical Allele Identifier: CA431392613

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593481C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728757C>G , CM000664.2:g.214728757C>G	GRCh38
NC_000002.11:g.215593481C>G , CM000664.1:g.215593481C>G	GRCh37
NC_000002.10:g.215301726C>G	NCBI36
NG_012047.2:g.85948G>C
NG_012047.3:g.85955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2253G>C MANE Select	ENSP00000260947.4:p.Arg751=
ENST00000421162.2:c.900G>C	ENSP00000392245.2:p.Arg300=
ENST00000613192.2:c.*316G>C	ENSP00000483275.2:n.*316G>C
ENST00000613374.5:c.843G>C	ENSP00000484464.1:p.Arg281=
ENST00000613706.5:c.1845G>C	ENSP00000484976.2:p.Arg615=
ENST00000617164.5:c.2196G>C	ENSP00000480470.1:p.Arg732=
ENST00000619009.5:c.714G>C	ENSP00000482293.1:p.Arg238=
ENST00000650978.1:c.3628G>C
ENST00000260947.8:c.2253G>C	ENSP00000260947.4:p.Arg751=
ENST00000432456.5:c.396G>C
ENST00000455743.5:c.*1873G>C	ENSP00000412186.1:n.*1873G>C
ENST00000471590.5:n.588G>C
ENST00000613192.1:c.423G>C	ENSP00000483275.1:p.Arg141=
ENST00000613374.4:c.843G>C	ENSP00000484464.1:p.Arg281=
ENST00000613706.4:c.900G>C	ENSP00000484976.1:p.Arg300=
ENST00000617164.4:c.2196G>C	ENSP00000480470.1:p.Arg732=
ENST00000619009.4:c.714G>C	ENSP00000482293.1:p.Arg238=
ENST00000620057.4:c.*919G>C	ENSP00000481988.1:n.*919G>C
NM_000465.3:c.2253G>C	NP_000456.2:p.Arg751=
NM_001282543.1:c.2196G>C	NP_001269472.1:p.Arg732=
NM_001282545.1:c.900G>C	NP_001269474.1:p.Arg300=
NM_001282548.1:c.843G>C	NP_001269477.1:p.Arg281=
NM_001282549.1:c.714G>C	NP_001269478.1:p.Arg238=
NR_104212.1:n.2246G>C
NR_104215.1:n.2189G>C
NR_104216.1:n.1445G>C
XM_011511567.1:c.2199G>C	XP_011509869.1:p.Arg733=
XM_017004613.1:c.2352G>C	XP_016860102.1:p.Arg784=
XR_002959322.1:n.2619G>C
NM_000465.4:c.2253G>C MANE Select	NP_000456.2:p.Arg751=
NM_001282543.2:c.2196G>C	NP_001269472.1:p.Arg732=
NM_001282545.2:c.900G>C	NP_001269474.1:p.Arg300=
NM_001282548.2:c.843G>C	NP_001269477.1:p.Arg281=
NM_001282549.2:c.714G>C	NP_001269478.1:p.Arg238=
NR_104212.2:n.2218G>C
NR_104215.2:n.2161G>C
NR_104216.2:n.1417G>C