Canonical Allele Identifier: CA2090354
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406763
dbSNP Id: rs779960429

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780897T>C , CM000664.2:g.214780897T>C GRCh38
NC_000002.11:g.215645621T>C , CM000664.1:g.215645621T>C GRCh37
NC_000002.10:g.215353866T>C NCBI36
NG_012047.2:g.33808A>G
NG_012047.3:g.33815A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.977A>G MANE Select ENSP00000260947.4:p.Asn326Ser
ENST00000421162.2:c.215+16164A>G ENSP00000392245.2:n.215+16164A>G
ENST00000613192.2:c.158+28515A>G ENSP00000483275.2:n.158+28515A>G
ENST00000613374.5:c.159-28342A>G ENSP00000484464.1:n.159-28342A>G
ENST00000613706.5:c.906+71A>G ENSP00000484976.2:n.906+71A>G
ENST00000617164.5:c.920A>G ENSP00000480470.1:p.Asn307Ser
ENST00000619009.5:c.364+11400A>G ENSP00000482293.1:n.364+11400A>G
ENST00000650978.1:c.819A>G
ENST00000260947.8:c.977A>G ENSP00000260947.4:p.Asn326Ser
ENST00000421162.1:c.215+16164A>G ENSP00000392245.1:n.215+16164A>G
ENST00000455743.5:c.*597A>G ENSP00000412186.1:n.*597A>G
ENST00000471787.1:n.872A>G
ENST00000613192.1:c.73+28515A>G ENSP00000483275.1:n.73+28515A>G
ENST00000613374.4:c.159-28342A>G ENSP00000484464.1:n.159-28342A>G
ENST00000613706.4:c.215+16164A>G ENSP00000484976.1:n.215+16164A>G
ENST00000617164.4:c.920A>G ENSP00000480470.1:p.Asn307Ser
ENST00000619009.4:c.364+11400A>G ENSP00000482293.1:n.364+11400A>G
ENST00000620057.4:c.364+11400A>G ENSP00000481988.1:n.364+11400A>G
NM_000465.3:c.977A>G NP_000456.2:p.Asn326Ser
NM_001282543.1:c.920A>G NP_001269472.1:p.Asn307Ser
NM_001282545.1:c.215+16164A>G NP_001269474.1:n.215+16164A>G
NM_001282548.1:c.159-28342A>G NP_001269477.1:n.159-28342A>G
NM_001282549.1:c.364+11400A>G NP_001269478.1:n.364+11400A>G
NR_104212.1:n.970A>G
NR_104215.1:n.913A>G
NR_104216.1:n.506+11400A>G
XM_011511567.1:c.923A>G XP_011509869.1:p.Asn308Ser
XM_011511568.1:c.977A>G XP_011509870.1:p.Asn326Ser
XM_017004613.1:c.1076A>G XP_016860102.1:p.Asn359Ser
XM_017004614.1:c.1076A>G XP_016860103.1:p.Asn359Ser
XR_002959322.1:n.1167A>G
NM_000465.4:c.977A>G MANE Select NP_000456.2:p.Asn326Ser
NM_001282543.2:c.920A>G NP_001269472.1:p.Asn307Ser
NM_001282545.2:c.215+16164A>G NP_001269474.1:n.215+16164A>G
NM_001282548.2:c.159-28342A>G NP_001269477.1:n.159-28342A>G
NM_001282549.2:c.364+11400A>G NP_001269478.1:n.364+11400A>G
NR_104212.2:n.942A>G
NR_104215.2:n.885A>G
NR_104216.2:n.478+11400A>G