Canonical Allele Identifier: CA431392601
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215593457A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728733A>C , CM000664.2:g.214728733A>C GRCh38
NC_000002.11:g.215593457A>C , CM000664.1:g.215593457A>C GRCh37
NC_000002.10:g.215301702A>C NCBI36
NG_012047.2:g.85972T>G
NG_012047.3:g.85979T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2277T>G MANE Select ENSP00000260947.4:p.Pro759=
ENST00000421162.2:c.924T>G ENSP00000392245.2:p.Pro308=
ENST00000613192.2:c.*340T>G ENSP00000483275.2:n.*340T>G
ENST00000613374.5:c.867T>G ENSP00000484464.1:p.Pro289=
ENST00000613706.5:c.1869T>G ENSP00000484976.2:p.Pro623=
ENST00000617164.5:c.2220T>G ENSP00000480470.1:p.Pro740=
ENST00000619009.5:c.738T>G ENSP00000482293.1:p.Pro246=
ENST00000650978.1:c.3652T>G
ENST00000260947.8:c.2277T>G ENSP00000260947.4:p.Pro759=
ENST00000432456.5:c.420T>G
ENST00000455743.5:c.*1897T>G ENSP00000412186.1:n.*1897T>G
ENST00000471590.5:n.612T>G
ENST00000613192.1:c.447T>G ENSP00000483275.1:p.Pro149=
ENST00000613374.4:c.867T>G ENSP00000484464.1:p.Pro289=
ENST00000613706.4:c.924T>G ENSP00000484976.1:p.Pro308=
ENST00000617164.4:c.2220T>G ENSP00000480470.1:p.Pro740=
ENST00000619009.4:c.738T>G ENSP00000482293.1:p.Pro246=
ENST00000620057.4:c.*943T>G ENSP00000481988.1:n.*943T>G
NM_000465.3:c.2277T>G NP_000456.2:p.Pro759=
NM_001282543.1:c.2220T>G NP_001269472.1:p.Pro740=
NM_001282545.1:c.924T>G NP_001269474.1:p.Pro308=
NM_001282548.1:c.867T>G NP_001269477.1:p.Pro289=
NM_001282549.1:c.738T>G NP_001269478.1:p.Pro246=
NR_104212.1:n.2270T>G
NR_104215.1:n.2213T>G
NR_104216.1:n.1469T>G
XM_011511567.1:c.2223T>G XP_011509869.1:p.Pro741=
XM_017004613.1:c.2376T>G XP_016860102.1:p.Pro792=
XR_002959322.1:n.2643T>G
NM_000465.4:c.2277T>G MANE Select NP_000456.2:p.Pro759=
NM_001282543.2:c.2220T>G NP_001269472.1:p.Pro740=
NM_001282545.2:c.924T>G NP_001269474.1:p.Pro308=
NM_001282548.2:c.867T>G NP_001269477.1:p.Pro289=
NM_001282549.2:c.738T>G NP_001269478.1:p.Pro246=
NR_104212.2:n.2242T>G
NR_104215.2:n.2185T>G
NR_104216.2:n.1441T>G