Canonical Allele Identifier: CA195207

Gene: BARD1

Linked Data

• ClinVar Variation Id: 186572
• ClinVar RCV Id: RCV000166189 ; RCV001479609
• dbSNP Id: rs750001065
• COSMIC: COSM1405215 ; COSM1405216
• MyVariant Identifiers: chr2:g.215593481C>T (hg19) ; chr2:g.214728757C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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