Canonical Allele Identifier: CA2090148
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234131
ClinVar RCV Id: RCV000215140
dbSNP Id: rs763018536

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745111C>T , CM000664.2:g.214745111C>T GRCh38
NC_000002.11:g.215609835C>T , CM000664.1:g.215609835C>T GRCh37
NC_000002.10:g.215318080C>T NCBI36
NG_012047.2:g.69594G>A
NG_012047.3:g.69601G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1859G>A MANE Select ENSP00000260947.4:p.Cys620Tyr
ENST00000421162.2:c.506G>A ENSP00000392245.2:p.Cys169Tyr
ENST00000613192.2:c.159-14603G>A ENSP00000483275.2:n.159-14603G>A
ENST00000613374.5:c.449G>A ENSP00000484464.1:p.Cys150Tyr
ENST00000613706.5:c.1451G>A ENSP00000484976.2:p.Cys484Tyr
ENST00000617164.5:c.1802G>A ENSP00000480470.1:p.Cys601Tyr
ENST00000619009.5:c.365-14603G>A ENSP00000482293.1:n.365-14603G>A
ENST00000650978.1:c.3234G>A
ENST00000260947.8:c.1859G>A ENSP00000260947.4:p.Cys620Tyr
ENST00000421162.1:c.506G>A ENSP00000392245.1:p.Cys169Tyr
ENST00000455743.5:c.*1479G>A ENSP00000412186.1:n.*1479G>A
ENST00000613192.1:c.74-14603G>A ENSP00000483275.1:n.74-14603G>A
ENST00000613374.4:c.449G>A ENSP00000484464.1:p.Cys150Tyr
ENST00000613706.4:c.506G>A ENSP00000484976.1:p.Cys169Tyr
ENST00000617164.4:c.1802G>A ENSP00000480470.1:p.Cys601Tyr
ENST00000619009.4:c.365-14603G>A ENSP00000482293.1:n.365-14603G>A
ENST00000620057.4:c.*525G>A ENSP00000481988.1:n.*525G>A
NM_000465.3:c.1859G>A NP_000456.2:p.Cys620Tyr
NM_001282543.1:c.1802G>A NP_001269472.1:p.Cys601Tyr
NM_001282545.1:c.506G>A NP_001269474.1:p.Cys169Tyr
NM_001282548.1:c.449G>A NP_001269477.1:p.Cys150Tyr
NM_001282549.1:c.365-14603G>A NP_001269478.1:n.365-14603G>A
NR_104212.1:n.1852G>A
NR_104215.1:n.1795G>A
NR_104216.1:n.1051G>A
XM_011511567.1:c.1805G>A XP_011509869.1:p.Cys602Tyr
XM_011511568.1:c.1859G>A XP_011509870.1:p.Cys620Tyr
XM_017004613.1:c.1958G>A XP_016860102.1:p.Cys653Tyr
XM_017004614.1:c.1958G>A XP_016860103.1:p.Cys653Tyr
XR_002959322.1:n.2049G>A
NM_000465.4:c.1859G>A MANE Select NP_000456.2:p.Cys620Tyr
NM_001282543.2:c.1802G>A NP_001269472.1:p.Cys601Tyr
NM_001282545.2:c.506G>A NP_001269474.1:p.Cys169Tyr
NM_001282548.2:c.449G>A NP_001269477.1:p.Cys150Tyr
NM_001282549.2:c.365-14603G>A NP_001269478.1:n.365-14603G>A
NR_104212.2:n.1824G>A
NR_104215.2:n.1767G>A
NR_104216.2:n.1023G>A