Canonical Allele Identifier: CA350457714

Gene: BARD1

Linked Data

• ClinVar Variation Id: 655931
• ClinVar RCV Id: RCV000812213 ; RCV002332670
• dbSNP Id: rs730881412
• MyVariant Identifiers: chr2:g.215646149C>G (hg19) ; chr2:g.214781425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781425C>G , CM000664.2:g.214781425C>G	GRCh38
NC_000002.11:g.215646149C>G , CM000664.1:g.215646149C>G	GRCh37
NC_000002.10:g.215354394C>G	NCBI36
NG_012047.2:g.33280G>C
NG_012047.3:g.33287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.449G>C MANE Select	ENSP00000260947.4:p.Arg150Pro
ENST00000421162.2:c.215+15636G>C	ENSP00000392245.2:n.215+15636G>C
ENST00000613192.2:c.158+27987G>C	ENSP00000483275.2:n.158+27987G>C
ENST00000613374.5:c.158+27987G>C	ENSP00000484464.1:n.158+27987G>C
ENST00000613706.5:c.449G>C	ENSP00000484976.2:p.Arg150Pro
ENST00000617164.5:c.392G>C	ENSP00000480470.1:p.Arg131Pro
ENST00000619009.5:c.364+10872G>C	ENSP00000482293.1:n.364+10872G>C
ENST00000650978.1:c.291G>C
ENST00000260947.8:c.449G>C	ENSP00000260947.4:p.Arg150Pro
ENST00000421162.1:c.215+15636G>C	ENSP00000392245.1:n.215+15636G>C
ENST00000455743.5:c.*69G>C	ENSP00000412186.1:n.*69G>C
ENST00000471787.1:n.344G>C
ENST00000613192.1:c.73+27987G>C	ENSP00000483275.1:n.73+27987G>C
ENST00000613374.4:c.158+27987G>C	ENSP00000484464.1:n.158+27987G>C
ENST00000613706.4:c.215+15636G>C	ENSP00000484976.1:n.215+15636G>C
ENST00000617164.4:c.392G>C	ENSP00000480470.1:p.Arg131Pro
ENST00000619009.4:c.364+10872G>C	ENSP00000482293.1:n.364+10872G>C
ENST00000620057.4:c.364+10872G>C	ENSP00000481988.1:n.364+10872G>C
NM_000465.3:c.449G>C	NP_000456.2:p.Arg150Pro
NM_001282543.1:c.392G>C	NP_001269472.1:p.Arg131Pro
NM_001282545.1:c.215+15636G>C	NP_001269474.1:n.215+15636G>C
NM_001282548.1:c.158+27987G>C	NP_001269477.1:n.158+27987G>C
NM_001282549.1:c.364+10872G>C	NP_001269478.1:n.364+10872G>C
NR_104212.1:n.442G>C
NR_104215.1:n.385G>C
NR_104216.1:n.506+10872G>C
XM_011511567.1:c.395G>C	XP_011509869.1:p.Arg132Pro
XM_011511568.1:c.449G>C	XP_011509870.1:p.Arg150Pro
XM_017004613.1:c.548G>C	XP_016860102.1:p.Arg183Pro
XM_017004614.1:c.548G>C	XP_016860103.1:p.Arg183Pro
XR_002959322.1:n.639G>C
NM_000465.4:c.449G>C MANE Select	NP_000456.2:p.Arg150Pro
NM_001282543.2:c.392G>C	NP_001269472.1:p.Arg131Pro
NM_001282545.2:c.215+15636G>C	NP_001269474.1:n.215+15636G>C
NM_001282548.2:c.158+27987G>C	NP_001269477.1:n.158+27987G>C
NM_001282549.2:c.364+10872G>C	NP_001269478.1:n.364+10872G>C
NR_104212.2:n.414G>C
NR_104215.2:n.357G>C
NR_104216.2:n.478+10872G>C