Canonical Allele Identifier: CA298488
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 182058
dbSNP Id: rs730881427

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728704G>C , CM000664.2:g.214728704G>C GRCh38
NC_000002.11:g.215593428G>C , CM000664.1:g.215593428G>C GRCh37
NC_000002.10:g.215301673G>C NCBI36
NG_012047.2:g.86001C>G
NG_012047.3:g.86008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2306C>G MANE Select ENSP00000260947.4:p.Ser769Cys
ENST00000421162.2:c.953C>G ENSP00000392245.2:p.Ser318Cys
ENST00000613192.2:c.*369C>G ENSP00000483275.2:n.*369C>G
ENST00000613374.5:c.896C>G ENSP00000484464.1:p.Ser299Cys
ENST00000613706.5:c.1898C>G ENSP00000484976.2:p.Ser633Cys
ENST00000617164.5:c.2249C>G ENSP00000480470.1:p.Ser750Cys
ENST00000619009.5:c.767C>G ENSP00000482293.1:p.Ser256Cys
ENST00000650978.1:c.3681C>G
ENST00000260947.8:c.2306C>G ENSP00000260947.4:p.Ser769Cys
ENST00000432456.5:c.449C>G
ENST00000455743.5:c.*1926C>G ENSP00000412186.1:n.*1926C>G
ENST00000471590.5:n.641C>G
ENST00000613192.1:c.476C>G ENSP00000483275.1:p.Ser159Cys
ENST00000613374.4:c.896C>G ENSP00000484464.1:p.Ser299Cys
ENST00000613706.4:c.953C>G ENSP00000484976.1:p.Ser318Cys
ENST00000617164.4:c.2249C>G ENSP00000480470.1:p.Ser750Cys
ENST00000619009.4:c.767C>G ENSP00000482293.1:p.Ser256Cys
ENST00000620057.4:c.*972C>G ENSP00000481988.1:n.*972C>G
NM_000465.3:c.2306C>G NP_000456.2:p.Ser769Cys
NM_001282543.1:c.2249C>G NP_001269472.1:p.Ser750Cys
NM_001282545.1:c.953C>G NP_001269474.1:p.Ser318Cys
NM_001282548.1:c.896C>G NP_001269477.1:p.Ser299Cys
NM_001282549.1:c.767C>G NP_001269478.1:p.Ser256Cys
NR_104212.1:n.2299C>G
NR_104215.1:n.2242C>G
NR_104216.1:n.1498C>G
XM_011511567.1:c.2252C>G XP_011509869.1:p.Ser751Cys
XM_017004613.1:c.2405C>G XP_016860102.1:p.Ser802Cys
XR_002959322.1:n.2672C>G
NM_000465.4:c.2306C>G MANE Select NP_000456.2:p.Ser769Cys
NM_001282543.2:c.2249C>G NP_001269472.1:p.Ser750Cys
NM_001282545.2:c.953C>G NP_001269474.1:p.Ser318Cys
NM_001282548.2:c.896C>G NP_001269477.1:p.Ser299Cys
NM_001282549.2:c.767C>G NP_001269478.1:p.Ser256Cys
NR_104212.2:n.2271C>G
NR_104215.2:n.2214C>G
NR_104216.2:n.1470C>G