Canonical Allele Identifier: CA287528
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127727
dbSNP Id: rs147215925

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730435T>C , CM000664.2:g.214730435T>C GRCh38
NC_000002.11:g.215595159T>C , CM000664.1:g.215595159T>C GRCh37
NC_000002.10:g.215303404T>C NCBI36
NG_012047.2:g.84270A>G
NG_012047.3:g.84277A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1977A>G MANE Select ENSP00000260947.4:p.Arg659=
ENST00000421162.2:c.624A>G ENSP00000392245.2:p.Arg208=
ENST00000613192.2:c.*40A>G ENSP00000483275.2:n.*40A>G
ENST00000613374.5:c.567A>G ENSP00000484464.1:p.Arg189=
ENST00000613706.5:c.1569A>G ENSP00000484976.2:p.Arg523=
ENST00000617164.5:c.1920A>G ENSP00000480470.1:p.Arg640=
ENST00000619009.5:c.438A>G ENSP00000482293.1:p.Arg146=
ENST00000650978.1:c.3352A>G
ENST00000260947.8:c.1977A>G ENSP00000260947.4:p.Arg659=
ENST00000421162.1:c.624A>G ENSP00000392245.1:p.Arg208=
ENST00000432456.5:c.74A>G
ENST00000455743.5:c.*1597A>G ENSP00000412186.1:n.*1597A>G
ENST00000471590.5:n.312A>G
ENST00000613192.1:c.147A>G ENSP00000483275.1:p.Arg49=
ENST00000613374.4:c.567A>G ENSP00000484464.1:p.Arg189=
ENST00000613706.4:c.624A>G ENSP00000484976.1:p.Arg208=
ENST00000617164.4:c.1920A>G ENSP00000480470.1:p.Arg640=
ENST00000619009.4:c.438A>G ENSP00000482293.1:p.Arg146=
ENST00000620057.4:c.*643A>G ENSP00000481988.1:n.*643A>G
NM_000465.3:c.1977A>G NP_000456.2:p.Arg659=
NM_001282543.1:c.1920A>G NP_001269472.1:p.Arg640=
NM_001282545.1:c.624A>G NP_001269474.1:p.Arg208=
NM_001282548.1:c.567A>G NP_001269477.1:p.Arg189=
NM_001282549.1:c.438A>G NP_001269478.1:p.Arg146=
NR_104212.1:n.1970A>G
NR_104215.1:n.1913A>G
NR_104216.1:n.1169A>G
XM_011511567.1:c.1923A>G XP_011509869.1:p.Arg641=
XM_017004613.1:c.2076A>G XP_016860102.1:p.Arg692=
XR_002959322.1:n.2167A>G
NM_000465.4:c.1977A>G MANE Select NP_000456.2:p.Arg659=
NM_001282543.2:c.1920A>G NP_001269472.1:p.Arg640=
NM_001282545.2:c.624A>G NP_001269474.1:p.Arg208=
NM_001282548.2:c.567A>G NP_001269477.1:p.Arg189=
NM_001282549.2:c.438A>G NP_001269478.1:p.Arg146=
NR_104212.2:n.1942A>G
NR_104215.2:n.1885A>G
NR_104216.2:n.1141A>G