Canonical Allele Identifier: CA2090146
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2450472
dbSNP Id: rs759973077

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745101C>T , CM000664.2:g.214745101C>T GRCh38
NC_000002.11:g.215609825C>T , CM000664.1:g.215609825C>T GRCh37
NC_000002.10:g.215318070C>T NCBI36
NG_012047.2:g.69604G>A
NG_012047.3:g.69611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1869G>A MANE Select ENSP00000260947.4:p.Gly623=
ENST00000421162.2:c.516G>A ENSP00000392245.2:p.Gly172=
ENST00000613192.2:c.159-14593G>A ENSP00000483275.2:n.159-14593G>A
ENST00000613374.5:c.459G>A ENSP00000484464.1:p.Gly153=
ENST00000613706.5:c.1461G>A ENSP00000484976.2:p.Gly487=
ENST00000617164.5:c.1812G>A ENSP00000480470.1:p.Gly604=
ENST00000619009.5:c.365-14593G>A ENSP00000482293.1:n.365-14593G>A
ENST00000650978.1:c.3244G>A
ENST00000260947.8:c.1869G>A ENSP00000260947.4:p.Gly623=
ENST00000421162.1:c.516G>A ENSP00000392245.1:p.Gly172=
ENST00000455743.5:c.*1489G>A ENSP00000412186.1:n.*1489G>A
ENST00000613192.1:c.74-14593G>A ENSP00000483275.1:n.74-14593G>A
ENST00000613374.4:c.459G>A ENSP00000484464.1:p.Gly153=
ENST00000613706.4:c.516G>A ENSP00000484976.1:p.Gly172=
ENST00000617164.4:c.1812G>A ENSP00000480470.1:p.Gly604=
ENST00000619009.4:c.365-14593G>A ENSP00000482293.1:n.365-14593G>A
ENST00000620057.4:c.*535G>A ENSP00000481988.1:n.*535G>A
NM_000465.3:c.1869G>A NP_000456.2:p.Gly623=
NM_001282543.1:c.1812G>A NP_001269472.1:p.Gly604=
NM_001282545.1:c.516G>A NP_001269474.1:p.Gly172=
NM_001282548.1:c.459G>A NP_001269477.1:p.Gly153=
NM_001282549.1:c.365-14593G>A NP_001269478.1:n.365-14593G>A
NR_104212.1:n.1862G>A
NR_104215.1:n.1805G>A
NR_104216.1:n.1061G>A
XM_011511567.1:c.1815G>A XP_011509869.1:p.Gly605=
XM_011511568.1:c.1869G>A XP_011509870.1:p.Gly623=
XM_017004613.1:c.1968G>A XP_016860102.1:p.Gly656=
XM_017004614.1:c.1968G>A XP_016860103.1:p.Gly656=
XR_002959322.1:n.2059G>A
NM_000465.4:c.1869G>A MANE Select NP_000456.2:p.Gly623=
NM_001282543.2:c.1812G>A NP_001269472.1:p.Gly604=
NM_001282545.2:c.516G>A NP_001269474.1:p.Gly172=
NM_001282548.2:c.459G>A NP_001269477.1:p.Gly153=
NM_001282549.2:c.365-14593G>A NP_001269478.1:n.365-14593G>A
NR_104212.2:n.1834G>A
NR_104215.2:n.1777G>A
NR_104216.2:n.1033G>A