Canonical Allele Identifier: CA350449985
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 949838
ClinVar RCV Id: RCV001221404
dbSNP Id: rs1692198935

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728756G>C , CM000664.2:g.214728756G>C GRCh38
NC_000002.11:g.215593480G>C , CM000664.1:g.215593480G>C GRCh37
NC_000002.10:g.215301725G>C NCBI36
NG_012047.2:g.85949C>G
NG_012047.3:g.85956C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2254C>G MANE Select ENSP00000260947.4:p.Gln752Glu
ENST00000421162.2:c.901C>G ENSP00000392245.2:p.Gln301Glu
ENST00000613192.2:c.*317C>G ENSP00000483275.2:n.*317C>G
ENST00000613374.5:c.844C>G ENSP00000484464.1:p.Gln282Glu
ENST00000613706.5:c.1846C>G ENSP00000484976.2:p.Gln616Glu
ENST00000617164.5:c.2197C>G ENSP00000480470.1:p.Gln733Glu
ENST00000619009.5:c.715C>G ENSP00000482293.1:p.Gln239Glu
ENST00000650978.1:c.3629C>G
ENST00000260947.8:c.2254C>G ENSP00000260947.4:p.Gln752Glu
ENST00000432456.5:c.397C>G
ENST00000455743.5:c.*1874C>G ENSP00000412186.1:n.*1874C>G
ENST00000471590.5:n.589C>G
ENST00000613192.1:c.424C>G ENSP00000483275.1:p.Gln142Glu
ENST00000613374.4:c.844C>G ENSP00000484464.1:p.Gln282Glu
ENST00000613706.4:c.901C>G ENSP00000484976.1:p.Gln301Glu
ENST00000617164.4:c.2197C>G ENSP00000480470.1:p.Gln733Glu
ENST00000619009.4:c.715C>G ENSP00000482293.1:p.Gln239Glu
ENST00000620057.4:c.*920C>G ENSP00000481988.1:n.*920C>G
NM_000465.3:c.2254C>G NP_000456.2:p.Gln752Glu
NM_001282543.1:c.2197C>G NP_001269472.1:p.Gln733Glu
NM_001282545.1:c.901C>G NP_001269474.1:p.Gln301Glu
NM_001282548.1:c.844C>G NP_001269477.1:p.Gln282Glu
NM_001282549.1:c.715C>G NP_001269478.1:p.Gln239Glu
NR_104212.1:n.2247C>G
NR_104215.1:n.2190C>G
NR_104216.1:n.1446C>G
XM_011511567.1:c.2200C>G XP_011509869.1:p.Gln734Glu
XM_017004613.1:c.2353C>G XP_016860102.1:p.Gln785Glu
XR_002959322.1:n.2620C>G
NM_000465.4:c.2254C>G MANE Select NP_000456.2:p.Gln752Glu
NM_001282543.2:c.2197C>G NP_001269472.1:p.Gln733Glu
NM_001282545.2:c.901C>G NP_001269474.1:p.Gln301Glu
NM_001282548.2:c.844C>G NP_001269477.1:p.Gln282Glu
NM_001282549.2:c.715C>G NP_001269478.1:p.Gln239Glu
NR_104212.2:n.2219C>G
NR_104215.2:n.2162C>G
NR_104216.2:n.1418C>G