Canonical Allele Identifier: CA294262
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142123
dbSNP Id: rs587782252

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745102C>T , CM000664.2:g.214745102C>T GRCh38
NC_000002.11:g.215609826C>T , CM000664.1:g.215609826C>T GRCh37
NC_000002.10:g.215318071C>T NCBI36
NG_012047.2:g.69603G>A
NG_012047.3:g.69610G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1868G>A MANE Select ENSP00000260947.4:p.Gly623Glu
ENST00000421162.2:c.515G>A ENSP00000392245.2:p.Gly172Glu
ENST00000613192.2:c.159-14594G>A ENSP00000483275.2:p.=
ENST00000613374.5:c.458G>A ENSP00000484464.1:p.Gly153Glu
ENST00000613706.5:c.1460G>A ENSP00000484976.2:p.Gly487Glu
ENST00000617164.5:c.1811G>A ENSP00000480470.1:p.Gly604Glu
ENST00000619009.5:c.365-14594G>A ENSP00000482293.1:p.=
ENST00000650978.1:n.3243G>A
ENST00000260947.8:c.1868G>A ENSP00000260947.4:p.Gly623Glu
ENST00000421162.1:c.515G>A ENSP00000392245.1:p.Gly172Glu
ENST00000455743.5:c.*1488G>A ENSP00000412186.1:p.=
ENST00000613192.1:c.74-14594G>A ENSP00000483275.1:p.=
ENST00000613374.4:c.458G>A ENSP00000484464.1:p.Gly153Glu
ENST00000613706.4:c.515G>A ENSP00000484976.1:p.Gly172Glu
ENST00000617164.4:c.1811G>A ENSP00000480470.1:p.Gly604Glu
ENST00000619009.4:c.365-14594G>A ENSP00000482293.1:p.=
ENST00000620057.4:c.*534G>A ENSP00000481988.1:p.=
NM_000465.3:c.1868G>A NP_000456.2:p.Gly623Glu
NM_001282543.1:c.1811G>A NP_001269472.1:p.Gly604Glu
NM_001282545.1:c.515G>A NP_001269474.1:p.Gly172Glu
NM_001282548.1:c.458G>A NP_001269477.1:p.Gly153Glu
NM_001282549.1:c.365-14594G>A NP_001269478.1:p.=
NR_104212.1:n.1861G>A
NR_104215.1:n.1804G>A
NR_104216.1:n.1060G>A
XM_011511567.1:c.1814G>A XP_011509869.1:p.Gly605Glu
XM_011511568.1:c.1868G>A XP_011509870.1:p.Gly623Glu
XM_017004613.1:c.1967G>A XP_016860102.1:p.Gly656Glu
XM_017004614.1:c.1967G>A XP_016860103.1:p.Gly656Glu
XR_002959322.1:n.2058G>A
NM_000465.4:c.1868G>A MANE Select NP_000456.2:p.Gly623Glu
NM_001282543.2:c.1811G>A NP_001269472.1:p.Gly604Glu
NM_001282545.2:c.515G>A NP_001269474.1:p.Gly172Glu
NM_001282548.2:c.458G>A NP_001269477.1:p.Gly153Glu
NM_001282549.2:c.365-14594G>A NP_001269478.1:p.=
NR_104212.2:n.1833G>A
NR_104215.2:n.1776G>A
NR_104216.2:n.1032G>A