Canonical Allele Identifier: CA298484
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 182056
dbSNP Id: rs730881425

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728731G>C , CM000664.2:g.214728731G>C GRCh38
NC_000002.11:g.215593455G>C , CM000664.1:g.215593455G>C GRCh37
NC_000002.10:g.215301700G>C NCBI36
NG_012047.2:g.85974C>G
NG_012047.3:g.85981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2279C>G MANE Select ENSP00000260947.4:p.Ser760Trp
ENST00000421162.2:c.926C>G ENSP00000392245.2:p.Ser309Trp
ENST00000613192.2:c.*342C>G ENSP00000483275.2:n.*342C>G
ENST00000613374.5:c.869C>G ENSP00000484464.1:p.Ser290Trp
ENST00000613706.5:c.1871C>G ENSP00000484976.2:p.Ser624Trp
ENST00000617164.5:c.2222C>G ENSP00000480470.1:p.Ser741Trp
ENST00000619009.5:c.740C>G ENSP00000482293.1:p.Ser247Trp
ENST00000650978.1:c.3654C>G
ENST00000260947.8:c.2279C>G ENSP00000260947.4:p.Ser760Trp
ENST00000432456.5:c.422C>G
ENST00000455743.5:c.*1899C>G ENSP00000412186.1:n.*1899C>G
ENST00000471590.5:n.614C>G
ENST00000613192.1:c.449C>G ENSP00000483275.1:p.Ser150Trp
ENST00000613374.4:c.869C>G ENSP00000484464.1:p.Ser290Trp
ENST00000613706.4:c.926C>G ENSP00000484976.1:p.Ser309Trp
ENST00000617164.4:c.2222C>G ENSP00000480470.1:p.Ser741Trp
ENST00000619009.4:c.740C>G ENSP00000482293.1:p.Ser247Trp
ENST00000620057.4:c.*945C>G ENSP00000481988.1:n.*945C>G
NM_000465.3:c.2279C>G NP_000456.2:p.Ser760Trp
NM_001282543.1:c.2222C>G NP_001269472.1:p.Ser741Trp
NM_001282545.1:c.926C>G NP_001269474.1:p.Ser309Trp
NM_001282548.1:c.869C>G NP_001269477.1:p.Ser290Trp
NM_001282549.1:c.740C>G NP_001269478.1:p.Ser247Trp
NR_104212.1:n.2272C>G
NR_104215.1:n.2215C>G
NR_104216.1:n.1471C>G
XM_011511567.1:c.2225C>G XP_011509869.1:p.Ser742Trp
XM_017004613.1:c.2378C>G XP_016860102.1:p.Ser793Trp
XR_002959322.1:n.2645C>G
NM_000465.4:c.2279C>G MANE Select NP_000456.2:p.Ser760Trp
NM_001282543.2:c.2222C>G NP_001269472.1:p.Ser741Trp
NM_001282545.2:c.926C>G NP_001269474.1:p.Ser309Trp
NM_001282548.2:c.869C>G NP_001269477.1:p.Ser290Trp
NM_001282549.2:c.740C>G NP_001269478.1:p.Ser247Trp
NR_104212.2:n.2244C>G
NR_104215.2:n.2187C>G
NR_104216.2:n.1443C>G