Canonical Allele Identifier: CA197457

Gene: BARD1

Linked Data

• ClinVar Variation Id: 187361
• ClinVar RCV Id: RCV000167084 ; RCV000820482
• dbSNP Id: rs786203673
• MyVariant Identifiers: chr2:g.215609836A>G (hg19) ; chr2:g.214745112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745112A>G , CM000664.2:g.214745112A>G	GRCh38
NC_000002.11:g.215609836A>G , CM000664.1:g.215609836A>G	GRCh37
NC_000002.10:g.215318081A>G	NCBI36
NG_012047.2:g.69593T>C
NG_012047.3:g.69600T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1858T>C MANE Select	ENSP00000260947.4:p.Cys620Arg
ENST00000421162.2:c.505T>C	ENSP00000392245.2:p.Cys169Arg
ENST00000613192.2:c.159-14604T>C	ENSP00000483275.2:n.159-14604T>C
ENST00000613374.5:c.448T>C	ENSP00000484464.1:p.Cys150Arg
ENST00000613706.5:c.1450T>C	ENSP00000484976.2:p.Cys484Arg
ENST00000617164.5:c.1801T>C	ENSP00000480470.1:p.Cys601Arg
ENST00000619009.5:c.365-14604T>C	ENSP00000482293.1:n.365-14604T>C
ENST00000650978.1:c.3233T>C
ENST00000260947.8:c.1858T>C	ENSP00000260947.4:p.Cys620Arg
ENST00000421162.1:c.505T>C	ENSP00000392245.1:p.Cys169Arg
ENST00000455743.5:c.*1478T>C	ENSP00000412186.1:n.*1478T>C
ENST00000613192.1:c.74-14604T>C	ENSP00000483275.1:n.74-14604T>C
ENST00000613374.4:c.448T>C	ENSP00000484464.1:p.Cys150Arg
ENST00000613706.4:c.505T>C	ENSP00000484976.1:p.Cys169Arg
ENST00000617164.4:c.1801T>C	ENSP00000480470.1:p.Cys601Arg
ENST00000619009.4:c.365-14604T>C	ENSP00000482293.1:n.365-14604T>C
ENST00000620057.4:c.*524T>C	ENSP00000481988.1:n.*524T>C
NM_000465.3:c.1858T>C	NP_000456.2:p.Cys620Arg
NM_001282543.1:c.1801T>C	NP_001269472.1:p.Cys601Arg
NM_001282545.1:c.505T>C	NP_001269474.1:p.Cys169Arg
NM_001282548.1:c.448T>C	NP_001269477.1:p.Cys150Arg
NM_001282549.1:c.365-14604T>C	NP_001269478.1:n.365-14604T>C
NR_104212.1:n.1851T>C
NR_104215.1:n.1794T>C
NR_104216.1:n.1050T>C
XM_011511567.1:c.1804T>C	XP_011509869.1:p.Cys602Arg
XM_011511568.1:c.1858T>C	XP_011509870.1:p.Cys620Arg
XM_017004613.1:c.1957T>C	XP_016860102.1:p.Cys653Arg
XM_017004614.1:c.1957T>C	XP_016860103.1:p.Cys653Arg
XR_002959322.1:n.2048T>C
NM_000465.4:c.1858T>C MANE Select	NP_000456.2:p.Cys620Arg
NM_001282543.2:c.1801T>C	NP_001269472.1:p.Cys601Arg
NM_001282545.2:c.505T>C	NP_001269474.1:p.Cys169Arg
NM_001282548.2:c.448T>C	NP_001269477.1:p.Cys150Arg
NM_001282549.2:c.365-14604T>C	NP_001269478.1:n.365-14604T>C
NR_104212.2:n.1823T>C
NR_104215.2:n.1766T>C
NR_104216.2:n.1022T>C