Canonical Allele Identifier: CA350450291

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1045014
• ClinVar RCV Id: RCV001349350
• dbSNP Id: rs587782248
• MyVariant Identifiers: chr2:g.215593542C>G (hg19) ; chr2:g.214728818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728818C>G , CM000664.2:g.214728818C>G	GRCh38
NC_000002.11:g.215593542C>G , CM000664.1:g.215593542C>G	GRCh37
NC_000002.10:g.215301787C>G	NCBI36
NG_012047.2:g.85887G>C
NG_012047.3:g.85894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2192G>C MANE Select	ENSP00000260947.4:p.Arg731Pro
ENST00000421162.2:c.839G>C	ENSP00000392245.2:p.Arg280Pro
ENST00000613192.2:c.*255G>C	ENSP00000483275.2:n.*255G>C
ENST00000613374.5:c.782G>C	ENSP00000484464.1:p.Arg261Pro
ENST00000613706.5:c.1784G>C	ENSP00000484976.2:p.Arg595Pro
ENST00000617164.5:c.2135G>C	ENSP00000480470.1:p.Arg712Pro
ENST00000619009.5:c.653G>C	ENSP00000482293.1:p.Arg218Pro
ENST00000650978.1:c.3567G>C
ENST00000260947.8:c.2192G>C	ENSP00000260947.4:p.Arg731Pro
ENST00000432456.5:c.335G>C
ENST00000455743.5:c.*1812G>C	ENSP00000412186.1:n.*1812G>C
ENST00000471590.5:n.527G>C
ENST00000613192.1:c.362G>C	ENSP00000483275.1:p.Arg121Pro
ENST00000613374.4:c.782G>C	ENSP00000484464.1:p.Arg261Pro
ENST00000613706.4:c.839G>C	ENSP00000484976.1:p.Arg280Pro
ENST00000617164.4:c.2135G>C	ENSP00000480470.1:p.Arg712Pro
ENST00000619009.4:c.653G>C	ENSP00000482293.1:p.Arg218Pro
ENST00000620057.4:c.*858G>C	ENSP00000481988.1:n.*858G>C
NM_000465.3:c.2192G>C	NP_000456.2:p.Arg731Pro
NM_001282543.1:c.2135G>C	NP_001269472.1:p.Arg712Pro
NM_001282545.1:c.839G>C	NP_001269474.1:p.Arg280Pro
NM_001282548.1:c.782G>C	NP_001269477.1:p.Arg261Pro
NM_001282549.1:c.653G>C	NP_001269478.1:p.Arg218Pro
NR_104212.1:n.2185G>C
NR_104215.1:n.2128G>C
NR_104216.1:n.1384G>C
XM_011511567.1:c.2138G>C	XP_011509869.1:p.Arg713Pro
XM_017004613.1:c.2291G>C	XP_016860102.1:p.Arg764Pro
XR_002959322.1:n.2558G>C
NM_000465.4:c.2192G>C MANE Select	NP_000456.2:p.Arg731Pro
NM_001282543.2:c.2135G>C	NP_001269472.1:p.Arg712Pro
NM_001282545.2:c.839G>C	NP_001269474.1:p.Arg280Pro
NM_001282548.2:c.782G>C	NP_001269477.1:p.Arg261Pro
NM_001282549.2:c.653G>C	NP_001269478.1:p.Arg218Pro
NR_104212.2:n.2157G>C
NR_104215.2:n.2100G>C
NR_104216.2:n.1356G>C