Canonical Allele Identifier: CA431392611
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215593475G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728751G>C , CM000664.2:g.214728751G>C GRCh38
NC_000002.11:g.215593475G>C , CM000664.1:g.215593475G>C GRCh37
NC_000002.10:g.215301720G>C NCBI36
NG_012047.2:g.85954C>G
NG_012047.3:g.85961C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2259C>G MANE Select ENSP00000260947.4:p.Gly753=
ENST00000421162.2:c.906C>G ENSP00000392245.2:p.Gly302=
ENST00000613192.2:c.*322C>G ENSP00000483275.2:n.*322C>G
ENST00000613374.5:c.849C>G ENSP00000484464.1:p.Gly283=
ENST00000613706.5:c.1851C>G ENSP00000484976.2:p.Gly617=
ENST00000617164.5:c.2202C>G ENSP00000480470.1:p.Gly734=
ENST00000619009.5:c.720C>G ENSP00000482293.1:p.Gly240=
ENST00000650978.1:c.3634C>G
ENST00000260947.8:c.2259C>G ENSP00000260947.4:p.Gly753=
ENST00000432456.5:c.402C>G
ENST00000455743.5:c.*1879C>G ENSP00000412186.1:n.*1879C>G
ENST00000471590.5:n.594C>G
ENST00000613192.1:c.429C>G ENSP00000483275.1:p.Gly143=
ENST00000613374.4:c.849C>G ENSP00000484464.1:p.Gly283=
ENST00000613706.4:c.906C>G ENSP00000484976.1:p.Gly302=
ENST00000617164.4:c.2202C>G ENSP00000480470.1:p.Gly734=
ENST00000619009.4:c.720C>G ENSP00000482293.1:p.Gly240=
ENST00000620057.4:c.*925C>G ENSP00000481988.1:n.*925C>G
NM_000465.3:c.2259C>G NP_000456.2:p.Gly753=
NM_001282543.1:c.2202C>G NP_001269472.1:p.Gly734=
NM_001282545.1:c.906C>G NP_001269474.1:p.Gly302=
NM_001282548.1:c.849C>G NP_001269477.1:p.Gly283=
NM_001282549.1:c.720C>G NP_001269478.1:p.Gly240=
NR_104212.1:n.2252C>G
NR_104215.1:n.2195C>G
NR_104216.1:n.1451C>G
XM_011511567.1:c.2205C>G XP_011509869.1:p.Gly735=
XM_017004613.1:c.2358C>G XP_016860102.1:p.Gly786=
XR_002959322.1:n.2625C>G
NM_000465.4:c.2259C>G MANE Select NP_000456.2:p.Gly753=
NM_001282543.2:c.2202C>G NP_001269472.1:p.Gly734=
NM_001282545.2:c.906C>G NP_001269474.1:p.Gly302=
NM_001282548.2:c.849C>G NP_001269477.1:p.Gly283=
NM_001282549.2:c.720C>G NP_001269478.1:p.Gly240=
NR_104212.2:n.2224C>G
NR_104215.2:n.2167C>G
NR_104216.2:n.1423C>G