Canonical Allele Identifier: CA16610709
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 414122
dbSNP Id: rs747466434

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728835T>C , CM000664.2:g.214728835T>C GRCh38
NC_000002.11:g.215593559T>C , CM000664.1:g.215593559T>C GRCh37
NC_000002.10:g.215301804T>C NCBI36
NG_012047.2:g.85870A>G
NG_012047.3:g.85877A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2175A>G MANE Select ENSP00000260947.4:p.Arg725=
ENST00000421162.2:c.822A>G ENSP00000392245.2:p.Arg274=
ENST00000613192.2:c.*238A>G ENSP00000483275.2:n.*238A>G
ENST00000613374.5:c.765A>G ENSP00000484464.1:p.Arg255=
ENST00000613706.5:c.1767A>G ENSP00000484976.2:p.Arg589=
ENST00000617164.5:c.2118A>G ENSP00000480470.1:p.Arg706=
ENST00000619009.5:c.636A>G ENSP00000482293.1:p.Arg212=
ENST00000650978.1:c.3550A>G
ENST00000260947.8:c.2175A>G ENSP00000260947.4:p.Arg725=
ENST00000432456.5:c.318A>G
ENST00000455743.5:c.*1795A>G ENSP00000412186.1:n.*1795A>G
ENST00000471590.5:n.510A>G
ENST00000613192.1:c.345A>G ENSP00000483275.1:p.Arg115=
ENST00000613374.4:c.765A>G ENSP00000484464.1:p.Arg255=
ENST00000613706.4:c.822A>G ENSP00000484976.1:p.Arg274=
ENST00000617164.4:c.2118A>G ENSP00000480470.1:p.Arg706=
ENST00000619009.4:c.636A>G ENSP00000482293.1:p.Arg212=
ENST00000620057.4:c.*841A>G ENSP00000481988.1:n.*841A>G
NM_000465.3:c.2175A>G NP_000456.2:p.Arg725=
NM_001282543.1:c.2118A>G NP_001269472.1:p.Arg706=
NM_001282545.1:c.822A>G NP_001269474.1:p.Arg274=
NM_001282548.1:c.765A>G NP_001269477.1:p.Arg255=
NM_001282549.1:c.636A>G NP_001269478.1:p.Arg212=
NR_104212.1:n.2168A>G
NR_104215.1:n.2111A>G
NR_104216.1:n.1367A>G
XM_011511567.1:c.2121A>G XP_011509869.1:p.Arg707=
XM_017004613.1:c.2274A>G XP_016860102.1:p.Arg758=
XR_002959322.1:n.2541A>G
NM_000465.4:c.2175A>G MANE Select NP_000456.2:p.Arg725=
NM_001282543.2:c.2118A>G NP_001269472.1:p.Arg706=
NM_001282545.2:c.822A>G NP_001269474.1:p.Arg274=
NM_001282548.2:c.765A>G NP_001269477.1:p.Arg255=
NM_001282549.2:c.636A>G NP_001269478.1:p.Arg212=
NR_104212.2:n.2140A>G
NR_104215.2:n.2083A>G
NR_104216.2:n.1339A>G