Canonical Allele Identifier: CA2090453
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1083583
ClinVar RCV Id: RCV001400312
dbSNP Id: rs776586419

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792325T>G , CM000664.2:g.214792325T>G GRCh38
NC_000002.11:g.215657049T>G , CM000664.1:g.215657049T>G GRCh37
NC_000002.10:g.215365294T>G NCBI36
NG_012047.2:g.22380A>C
NG_012047.3:g.22387A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.336A>C MANE Select ENSP00000260947.4:p.Arg112=
ENST00000421162.2:c.215+4736A>C ENSP00000392245.2:n.215+4736A>C
ENST00000613192.2:c.158+17087A>C ENSP00000483275.2:n.158+17087A>C
ENST00000613374.5:c.158+17087A>C ENSP00000484464.1:n.158+17087A>C
ENST00000613706.5:c.336A>C ENSP00000484976.2:p.Arg112=
ENST00000617164.5:c.279A>C ENSP00000480470.1:p.Arg93=
ENST00000619009.5:c.336A>C ENSP00000482293.1:p.Arg112=
ENST00000650978.1:c.178A>C
ENST00000260947.8:c.336A>C ENSP00000260947.4:p.Arg112=
ENST00000421162.1:c.215+4736A>C ENSP00000392245.1:n.215+4736A>C
ENST00000455743.5:c.215+4736A>C ENSP00000412186.1:n.215+4736A>C
ENST00000471787.1:n.260-10816A>C
ENST00000613192.1:c.73+17087A>C ENSP00000483275.1:n.73+17087A>C
ENST00000613374.4:c.158+17087A>C ENSP00000484464.1:n.158+17087A>C
ENST00000613706.4:c.215+4736A>C ENSP00000484976.1:n.215+4736A>C
ENST00000617164.4:c.279A>C ENSP00000480470.1:p.Arg93=
ENST00000619009.4:c.336A>C ENSP00000482293.1:p.Arg112=
ENST00000620057.4:c.336A>C ENSP00000481988.1:p.Arg112=
NM_000465.3:c.336A>C NP_000456.2:p.Arg112=
NM_001282543.1:c.279A>C NP_001269472.1:p.Arg93=
NM_001282545.1:c.215+4736A>C NP_001269474.1:n.215+4736A>C
NM_001282548.1:c.158+17087A>C NP_001269477.1:n.158+17087A>C
NM_001282549.1:c.336A>C NP_001269478.1:p.Arg112=
NR_104212.1:n.357+4736A>C
NR_104215.1:n.301-10816A>C
NR_104216.1:n.478A>C
XM_011511567.1:c.282A>C XP_011509869.1:p.Arg94=
XM_011511568.1:c.336A>C XP_011509870.1:p.Arg112=
XM_017004613.1:c.435A>C XP_016860102.1:p.Arg145=
XM_017004614.1:c.435A>C XP_016860103.1:p.Arg145=
XR_002959322.1:n.526A>C
NM_000465.4:c.336A>C MANE Select NP_000456.2:p.Arg112=
NM_001282543.2:c.279A>C NP_001269472.1:p.Arg93=
NM_001282545.2:c.215+4736A>C NP_001269474.1:n.215+4736A>C
NM_001282548.2:c.158+17087A>C NP_001269477.1:n.158+17087A>C
NM_001282549.2:c.336A>C NP_001269478.1:p.Arg112=
NR_104212.2:n.329+4736A>C
NR_104215.2:n.273-10816A>C
NR_104216.2:n.450A>C