Canonical Allele Identifier: CA350453393

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479190
• ClinVar RCV Id: RCV000574204 ; RCV001865704
• dbSNP Id: rs1553622109
• MyVariant Identifiers: chr2:g.215645317T>G (hg19) ; chr2:g.214780593T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780593T>G , CM000664.2:g.214780593T>G	GRCh38
NC_000002.11:g.215645317T>G , CM000664.1:g.215645317T>G	GRCh37
NC_000002.10:g.215353562T>G	NCBI36
NG_012047.2:g.34112A>C
NG_012047.3:g.34119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1281A>C MANE Select	ENSP00000260947.4:p.Arg427Ser
ENST00000421162.2:c.215+16468A>C	ENSP00000392245.2:n.215+16468A>C
ENST00000613192.2:c.158+28819A>C	ENSP00000483275.2:n.158+28819A>C
ENST00000613374.5:c.159-28038A>C	ENSP00000484464.1:n.159-28038A>C
ENST00000613706.5:c.906+375A>C	ENSP00000484976.2:n.906+375A>C
ENST00000617164.5:c.1224A>C	ENSP00000480470.1:p.Arg408Ser
ENST00000619009.5:c.364+11704A>C	ENSP00000482293.1:n.364+11704A>C
ENST00000650978.1:c.1123A>C
ENST00000260947.8:c.1281A>C	ENSP00000260947.4:p.Arg427Ser
ENST00000421162.1:c.215+16468A>C	ENSP00000392245.1:n.215+16468A>C
ENST00000455743.5:c.*901A>C	ENSP00000412186.1:n.*901A>C
ENST00000613192.1:c.73+28819A>C	ENSP00000483275.1:n.73+28819A>C
ENST00000613374.4:c.159-28038A>C	ENSP00000484464.1:n.159-28038A>C
ENST00000613706.4:c.215+16468A>C	ENSP00000484976.1:n.215+16468A>C
ENST00000617164.4:c.1224A>C	ENSP00000480470.1:p.Arg408Ser
ENST00000619009.4:c.364+11704A>C	ENSP00000482293.1:n.364+11704A>C
ENST00000620057.4:c.365-11281A>C	ENSP00000481988.1:n.365-11281A>C
NM_000465.3:c.1281A>C	NP_000456.2:p.Arg427Ser
NM_001282543.1:c.1224A>C	NP_001269472.1:p.Arg408Ser
NM_001282545.1:c.215+16468A>C	NP_001269474.1:n.215+16468A>C
NM_001282548.1:c.159-28038A>C	NP_001269477.1:n.159-28038A>C
NM_001282549.1:c.364+11704A>C	NP_001269478.1:n.364+11704A>C
NR_104212.1:n.1274A>C
NR_104215.1:n.1217A>C
NR_104216.1:n.507-11281A>C
XM_011511567.1:c.1227A>C	XP_011509869.1:p.Arg409Ser
XM_011511568.1:c.1281A>C	XP_011509870.1:p.Arg427Ser
XM_017004613.1:c.1380A>C	XP_016860102.1:p.Arg460Ser
XM_017004614.1:c.1380A>C	XP_016860103.1:p.Arg460Ser
XR_002959322.1:n.1471A>C
NM_000465.4:c.1281A>C MANE Select	NP_000456.2:p.Arg427Ser
NM_001282543.2:c.1224A>C	NP_001269472.1:p.Arg408Ser
NM_001282545.2:c.215+16468A>C	NP_001269474.1:n.215+16468A>C
NM_001282548.2:c.159-28038A>C	NP_001269477.1:n.159-28038A>C
NM_001282549.2:c.364+11704A>C	NP_001269478.1:n.364+11704A>C
NR_104212.2:n.1246A>C
NR_104215.2:n.1189A>C
NR_104216.2:n.479-11281A>C