Canonical Allele Identifier: CA431141872
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215657090T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792366T>G , CM000664.2:g.214792366T>G GRCh38
NC_000002.11:g.215657090T>G , CM000664.1:g.215657090T>G GRCh37
NC_000002.10:g.215365335T>G NCBI36
NG_012047.2:g.22339A>C
NG_012047.3:g.22346A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.295A>C MANE Select ENSP00000260947.4:p.Arg99=
ENST00000421162.2:c.215+4695A>C ENSP00000392245.2:n.215+4695A>C
ENST00000613192.2:c.158+17046A>C ENSP00000483275.2:n.158+17046A>C
ENST00000613374.5:c.158+17046A>C ENSP00000484464.1:n.158+17046A>C
ENST00000613706.5:c.295A>C ENSP00000484976.2:p.Arg99=
ENST00000617164.5:c.238A>C ENSP00000480470.1:p.Arg80=
ENST00000619009.5:c.295A>C ENSP00000482293.1:p.Arg99=
ENST00000650978.1:c.137A>C
ENST00000260947.8:c.295A>C ENSP00000260947.4:p.Arg99=
ENST00000421162.1:c.215+4695A>C ENSP00000392245.1:n.215+4695A>C
ENST00000455743.5:c.215+4695A>C ENSP00000412186.1:n.215+4695A>C
ENST00000471787.1:n.260-10857A>C
ENST00000613192.1:c.73+17046A>C ENSP00000483275.1:n.73+17046A>C
ENST00000613374.4:c.158+17046A>C ENSP00000484464.1:n.158+17046A>C
ENST00000613706.4:c.215+4695A>C ENSP00000484976.1:n.215+4695A>C
ENST00000617164.4:c.238A>C ENSP00000480470.1:p.Arg80=
ENST00000619009.4:c.295A>C ENSP00000482293.1:p.Arg99=
ENST00000620057.4:c.295A>C ENSP00000481988.1:p.Arg99=
NM_000465.3:c.295A>C NP_000456.2:p.Arg99=
NM_001282543.1:c.238A>C NP_001269472.1:p.Arg80=
NM_001282545.1:c.215+4695A>C NP_001269474.1:n.215+4695A>C
NM_001282548.1:c.158+17046A>C NP_001269477.1:n.158+17046A>C
NM_001282549.1:c.295A>C NP_001269478.1:p.Arg99=
NR_104212.1:n.357+4695A>C
NR_104215.1:n.301-10857A>C
NR_104216.1:n.437A>C
XM_011511567.1:c.241A>C XP_011509869.1:p.Arg81=
XM_011511568.1:c.295A>C XP_011509870.1:p.Arg99=
XM_017004613.1:c.394A>C XP_016860102.1:p.Arg132=
XM_017004614.1:c.394A>C XP_016860103.1:p.Arg132=
XR_002959322.1:n.485A>C
NM_000465.4:c.295A>C MANE Select NP_000456.2:p.Arg99=
NM_001282543.2:c.238A>C NP_001269472.1:p.Arg80=
NM_001282545.2:c.215+4695A>C NP_001269474.1:n.215+4695A>C
NM_001282548.2:c.158+17046A>C NP_001269477.1:n.158+17046A>C
NM_001282549.2:c.295A>C NP_001269478.1:p.Arg99=
NR_104212.2:n.329+4695A>C
NR_104215.2:n.273-10857A>C
NR_104216.2:n.409A>C