Canonical Allele Identifier: CA431139748
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215595228T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730504T>A , CM000664.2:g.214730504T>A GRCh38
NC_000002.11:g.215595228T>A , CM000664.1:g.215595228T>A GRCh37
NC_000002.10:g.215303473T>A NCBI36
NG_012047.2:g.84201A>T
NG_012047.3:g.84208A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1908A>T MANE Select ENSP00000260947.4:p.Val636=
ENST00000421162.2:c.555A>T ENSP00000392245.2:p.Val185=
ENST00000613192.2:c.163A>T ENSP00000483275.2:p.Lys55Ter
ENST00000613374.5:c.498A>T ENSP00000484464.1:p.Val166=
ENST00000613706.5:c.1500A>T ENSP00000484976.2:p.Val500=
ENST00000617164.5:c.1851A>T ENSP00000480470.1:p.Val617=
ENST00000619009.5:c.369A>T ENSP00000482293.1:p.Val123=
ENST00000650978.1:c.3283A>T
ENST00000260947.8:c.1908A>T ENSP00000260947.4:p.Val636=
ENST00000421162.1:c.555A>T ENSP00000392245.1:p.Val185=
ENST00000432456.5:c.5A>T
ENST00000455743.5:c.*1528A>T ENSP00000412186.1:n.*1528A>T
ENST00000471590.5:n.243A>T
ENST00000613192.1:c.78A>T ENSP00000483275.1:p.Val26=
ENST00000613374.4:c.498A>T ENSP00000484464.1:p.Val166=
ENST00000613706.4:c.555A>T ENSP00000484976.1:p.Val185=
ENST00000617164.4:c.1851A>T ENSP00000480470.1:p.Val617=
ENST00000619009.4:c.369A>T ENSP00000482293.1:p.Val123=
ENST00000620057.4:c.*574A>T ENSP00000481988.1:n.*574A>T
NM_000465.3:c.1908A>T NP_000456.2:p.Val636=
NM_001282543.1:c.1851A>T NP_001269472.1:p.Val617=
NM_001282545.1:c.555A>T NP_001269474.1:p.Val185=
NM_001282548.1:c.498A>T NP_001269477.1:p.Val166=
NM_001282549.1:c.369A>T NP_001269478.1:p.Val123=
NR_104212.1:n.1901A>T
NR_104215.1:n.1844A>T
NR_104216.1:n.1100A>T
XM_011511567.1:c.1854A>T XP_011509869.1:p.Val618=
XM_017004613.1:c.2007A>T XP_016860102.1:p.Val669=
XR_002959322.1:n.2098A>T
NM_000465.4:c.1908A>T MANE Select NP_000456.2:p.Val636=
NM_001282543.2:c.1851A>T NP_001269472.1:p.Val617=
NM_001282545.2:c.555A>T NP_001269474.1:p.Val185=
NM_001282548.2:c.498A>T NP_001269477.1:p.Val166=
NM_001282549.2:c.369A>T NP_001269478.1:p.Val123=
NR_104212.2:n.1873A>T
NR_104215.2:n.1816A>T
NR_104216.2:n.1072A>T