Canonical Allele Identifier: CA287535
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127732
dbSNP Id: rs76744638

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728819G>C , CM000664.2:g.214728819G>C GRCh38
NC_000002.11:g.215593543G>C , CM000664.1:g.215593543G>C GRCh37
NC_000002.10:g.215301788G>C NCBI36
NG_012047.2:g.85886C>G
NG_012047.3:g.85893C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2191C>G MANE Select ENSP00000260947.4:p.Arg731Gly
ENST00000421162.2:c.838C>G ENSP00000392245.2:p.Arg280Gly
ENST00000613192.2:c.*254C>G ENSP00000483275.2:n.*254C>G
ENST00000613374.5:c.781C>G ENSP00000484464.1:p.Arg261Gly
ENST00000613706.5:c.1783C>G ENSP00000484976.2:p.Arg595Gly
ENST00000617164.5:c.2134C>G ENSP00000480470.1:p.Arg712Gly
ENST00000619009.5:c.652C>G ENSP00000482293.1:p.Arg218Gly
ENST00000650978.1:c.3566C>G
ENST00000260947.8:c.2191C>G ENSP00000260947.4:p.Arg731Gly
ENST00000432456.5:c.334C>G
ENST00000455743.5:c.*1811C>G ENSP00000412186.1:n.*1811C>G
ENST00000471590.5:n.526C>G
ENST00000613192.1:c.361C>G ENSP00000483275.1:p.Arg121Gly
ENST00000613374.4:c.781C>G ENSP00000484464.1:p.Arg261Gly
ENST00000613706.4:c.838C>G ENSP00000484976.1:p.Arg280Gly
ENST00000617164.4:c.2134C>G ENSP00000480470.1:p.Arg712Gly
ENST00000619009.4:c.652C>G ENSP00000482293.1:p.Arg218Gly
ENST00000620057.4:c.*857C>G ENSP00000481988.1:n.*857C>G
NM_000465.3:c.2191C>G NP_000456.2:p.Arg731Gly
NM_001282543.1:c.2134C>G NP_001269472.1:p.Arg712Gly
NM_001282545.1:c.838C>G NP_001269474.1:p.Arg280Gly
NM_001282548.1:c.781C>G NP_001269477.1:p.Arg261Gly
NM_001282549.1:c.652C>G NP_001269478.1:p.Arg218Gly
NR_104212.1:n.2184C>G
NR_104215.1:n.2127C>G
NR_104216.1:n.1383C>G
XM_011511567.1:c.2137C>G XP_011509869.1:p.Arg713Gly
XM_017004613.1:c.2290C>G XP_016860102.1:p.Arg764Gly
XR_002959322.1:n.2557C>G
NM_000465.4:c.2191C>G MANE Select NP_000456.2:p.Arg731Gly
NM_001282543.2:c.2134C>G NP_001269472.1:p.Arg712Gly
NM_001282545.2:c.838C>G NP_001269474.1:p.Arg280Gly
NM_001282548.2:c.781C>G NP_001269477.1:p.Arg261Gly
NM_001282549.2:c.652C>G NP_001269478.1:p.Arg218Gly
NR_104212.2:n.2156C>G
NR_104215.2:n.2099C>G
NR_104216.2:n.1355C>G