Canonical Allele Identifier: CA431393365
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215593561T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728837T>G , CM000664.2:g.214728837T>G GRCh38
NC_000002.11:g.215593561T>G , CM000664.1:g.215593561T>G GRCh37
NC_000002.10:g.215301806T>G NCBI36
NG_012047.2:g.85868A>C
NG_012047.3:g.85875A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2173A>C MANE Select ENSP00000260947.4:p.Arg725=
ENST00000421162.2:c.820A>C ENSP00000392245.2:p.Arg274=
ENST00000613192.2:c.*236A>C ENSP00000483275.2:n.*236A>C
ENST00000613374.5:c.763A>C ENSP00000484464.1:p.Arg255=
ENST00000613706.5:c.1765A>C ENSP00000484976.2:p.Arg589=
ENST00000617164.5:c.2116A>C ENSP00000480470.1:p.Arg706=
ENST00000619009.5:c.634A>C ENSP00000482293.1:p.Arg212=
ENST00000650978.1:c.3548A>C
ENST00000260947.8:c.2173A>C ENSP00000260947.4:p.Arg725=
ENST00000432456.5:c.316A>C
ENST00000455743.5:c.*1793A>C ENSP00000412186.1:n.*1793A>C
ENST00000471590.5:n.508A>C
ENST00000613192.1:c.343A>C ENSP00000483275.1:p.Arg115=
ENST00000613374.4:c.763A>C ENSP00000484464.1:p.Arg255=
ENST00000613706.4:c.820A>C ENSP00000484976.1:p.Arg274=
ENST00000617164.4:c.2116A>C ENSP00000480470.1:p.Arg706=
ENST00000619009.4:c.634A>C ENSP00000482293.1:p.Arg212=
ENST00000620057.4:c.*839A>C ENSP00000481988.1:n.*839A>C
NM_000465.3:c.2173A>C NP_000456.2:p.Arg725=
NM_001282543.1:c.2116A>C NP_001269472.1:p.Arg706=
NM_001282545.1:c.820A>C NP_001269474.1:p.Arg274=
NM_001282548.1:c.763A>C NP_001269477.1:p.Arg255=
NM_001282549.1:c.634A>C NP_001269478.1:p.Arg212=
NR_104212.1:n.2166A>C
NR_104215.1:n.2109A>C
NR_104216.1:n.1365A>C
XM_011511567.1:c.2119A>C XP_011509869.1:p.Arg707=
XM_017004613.1:c.2272A>C XP_016860102.1:p.Arg758=
XR_002959322.1:n.2539A>C
NM_000465.4:c.2173A>C MANE Select NP_000456.2:p.Arg725=
NM_001282543.2:c.2116A>C NP_001269472.1:p.Arg706=
NM_001282545.2:c.820A>C NP_001269474.1:p.Arg274=
NM_001282548.2:c.763A>C NP_001269477.1:p.Arg255=
NM_001282549.2:c.634A>C NP_001269478.1:p.Arg212=
NR_104212.2:n.2138A>C
NR_104215.2:n.2081A>C
NR_104216.2:n.1337A>C