Canonical Allele Identifier: CA1751419312
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807681A= , CM000669.2:g.148807681A= GRCh38
NC_000007.13:g.148504773A= , CM000669.1:g.148504773A= GRCh37
NC_000007.12:g.148135706A= NCBI36
NG_032043.1:g.81669T= , LRG_531:g.81669T=

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.2221T= MANE Select NP_004447.2:p.Tyr741=
ENST00000320356.7:c.2221T= MANE Select ENSP00000320147.2:p.Tyr741=
NM_001203247.1:c.2206T= NP_001190176.1:p.Tyr736=
NM_001203247.2:c.2206T= NP_001190176.1:p.Tyr736=
NM_001203248.1:c.2179T= NP_001190177.1:p.Tyr727=
NM_001203248.2:c.2179T= NP_001190177.1:p.Tyr727=
NM_001203249.1:c.2053T= NP_001190178.1:p.Tyr685=
NM_001203249.2:c.2053T= NP_001190178.1:p.Tyr685=
NM_004456.4:c.2221T= , LRG_531t1:c.2221T= NP_004447.2:p.Tyr741=
NM_152998.2:c.2089T= NP_694543.1:p.Tyr697=
NM_152998.3:c.2089T= NP_694543.1:p.Tyr697=
ENST00000320356.6:c.2221T= ENSP00000320147.2:p.Tyr741=
ENST00000350995.6:c.2089T= ENSP00000223193.2:p.Tyr697=
ENST00000460911.5:c.2206T= ENSP00000419711.1:p.Tyr736=
ENST00000476773.5:c.2053T= ENSP00000419050.1:p.Tyr685=
ENST00000478654.5:c.2053T= ENSP00000417062.1:p.Tyr685=
ENST00000483967.5:c.2179T= ENSP00000419856.1:p.Tyr727=
ENST00000492143.5:c.*2211T= ENSP00000417377.1:n.*2211T=
ENST00000682263.1:n.4121T=
ENST00000682317.1:c.*1283T= ENSP00000508286.1:n.*1283T=
ENST00000683292.1:c.*1117T= ENSP00000507503.1:n.*1117T=
ENST00000683293.1:n.3940T=
ENST00000683744.1:c.*1283T= ENSP00000506949.1:n.*1283T=
ENST00000684300.1:c.*1283T= ENSP00000508407.1:n.*1283T=
ENST00000684400.1:n.4208T=
ENST00000684436.1:n.2537T=
ENST00000684510.1:n.2599T=
XM_005249962.3:c.2230T= XP_005250019.1:p.Tyr744=
XM_005249962.4:c.2230T= XP_005250019.1:p.Tyr744=
XM_005249963.3:c.2203T= XP_005250020.1:p.Tyr735=
XM_005249963.4:c.2203T= XP_005250020.1:p.Tyr735=
XM_005249964.3:c.2077T= XP_005250021.1:p.Tyr693=
XM_005249964.4:c.2077T= XP_005250021.1:p.Tyr693=
XM_011515883.1:c.2245T= XP_011514185.1:p.Tyr749=
XM_011515883.2:c.2245T= XP_011514185.1:p.Tyr749=
XM_011515884.1:c.2221T= XP_011514186.1:p.Tyr741=
XM_011515884.2:c.2221T= XP_011514186.1:p.Tyr741=
XM_011515885.1:c.2218T= XP_011514187.1:p.Tyr740=
XM_011515885.2:c.2218T= XP_011514187.1:p.Tyr740=
XM_011515886.1:c.2197T= XP_011514188.1:p.Tyr733=
XM_011515886.2:c.2197T= XP_011514188.1:p.Tyr733=
XM_011515887.1:c.2194T= XP_011514189.1:p.Tyr732=
XM_011515887.3:c.2194T= XP_011514189.1:p.Tyr732=
XM_011515888.1:c.2194T= XP_011514190.1:p.Tyr732=
XM_011515888.2:c.2194T= XP_011514190.1:p.Tyr732=
XM_011515889.1:c.2155T= XP_011514191.1:p.Tyr719=
XM_011515889.2:c.2155T= XP_011514191.1:p.Tyr719=
XM_011515890.1:c.2128T= XP_011514192.1:p.Tyr710=
XM_011515890.2:c.2128T= XP_011514192.1:p.Tyr710=
XM_011515891.1:c.2122T= XP_011514193.1:p.Tyr708=
XM_011515891.3:c.2122T= XP_011514193.1:p.Tyr708=
XM_011515892.1:c.2119T= XP_011514194.1:p.Tyr707=
XM_011515892.2:c.2119T= XP_011514194.1:p.Tyr707=
XM_011515893.1:c.2113T= XP_011514195.1:p.Tyr705=
XM_011515893.2:c.2113T= XP_011514195.1:p.Tyr705=
XM_011515894.1:c.2104T= XP_011514196.1:p.Tyr702=
XM_011515894.2:c.2104T= XP_011514196.1:p.Tyr702=
XM_011515895.1:c.2101T= XP_011514197.1:p.Tyr701=
XM_011515895.2:c.2101T= XP_011514197.1:p.Tyr701=
XM_011515896.1:c.1987T= XP_011514198.1:p.Tyr663=
XM_011515896.2:c.1987T= XP_011514198.1:p.Tyr663=
XM_011515897.1:c.1894T= XP_011514199.1:p.Tyr632=
XM_011515897.2:c.1894T= XP_011514199.1:p.Tyr632=
XM_011515898.1:c.1894T= XP_011514200.1:p.Tyr632=
XM_011515898.2:c.1894T= XP_011514200.1:p.Tyr632=
XM_017011817.2:c.2245T= XP_016867306.1:p.Tyr749=
XM_017011818.1:c.2182T= XP_016867307.1:p.Tyr728=
XM_017011819.1:c.2104T= XP_016867308.1:p.Tyr702=
XM_017011820.2:c.2077T= XP_016867309.1:p.Tyr693=
XM_017011821.1:c.1879T= XP_016867310.1:p.Tyr627=
XM_024446680.1:c.2107T= XP_024302448.1:p.Tyr703=
XR_001744581.1:n.4595T=
XR_002956413.1:n.5251T=
XR_002956414.1:n.5711T=
XR_928101.1:n.515+2596A=
XR_928102.1:n.722+2596A=