Canonical Allele Identifier: CA16618392
Gene: EZH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421581
ClinVar RCV Id: RCV000485321
dbSNP Id: rs1064795225

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682263.1:n.4121T>C
ENST00000682317.1:c.*1283T>C ENSP00000508286.1:n.*1283T>C
ENST00000683292.1:c.*1117T>C ENSP00000507503.1:n.*1117T>C
ENST00000683293.1:n.3940T>C
ENST00000683744.1:c.*1283T>C ENSP00000506949.1:n.*1283T>C
ENST00000684300.1:c.*1283T>C ENSP00000508407.1:n.*1283T>C
ENST00000684400.1:n.4208T>C
ENST00000684436.1:n.2537T>C
ENST00000684510.1:n.2599T>C
ENST00000320356.7:c.2221T>C MANE Select ENSP00000320147.2:p.Tyr741His
ENST00000320356.6:c.2221T>C ENSP00000320147.2:p.Tyr741His
ENST00000350995.6:c.2089T>C ENSP00000223193.2:p.Tyr697His
ENST00000460911.5:c.2206T>C ENSP00000419711.1:p.Tyr736His
ENST00000476773.5:c.2053T>C ENSP00000419050.1:p.Tyr685His
ENST00000478654.5:c.2053T>C ENSP00000417062.1:p.Tyr685His
ENST00000483967.5:c.2179T>C ENSP00000419856.1:p.Tyr727His
ENST00000492143.5:c.*2211T>C ENSP00000417377.1:n.*2211T>C
NM_001203247.1:c.2206T>C NP_001190176.1:p.Tyr736His
NM_001203248.1:c.2179T>C NP_001190177.1:p.Tyr727His
NM_001203249.1:c.2053T>C NP_001190178.1:p.Tyr685His
NM_004456.4:c.2221T>C , LRG_531t1:c.2221T>C NP_004447.2:p.Tyr741His
NM_152998.2:c.2089T>C NP_694543.1:p.Tyr697His
XM_005249962.3:c.2230T>C XP_005250019.1:p.Tyr744His
XM_005249963.3:c.2203T>C XP_005250020.1:p.Tyr735His
XM_005249964.3:c.2077T>C XP_005250021.1:p.Tyr693His
XM_011515883.1:c.2245T>C XP_011514185.1:p.Tyr749His
XM_011515884.1:c.2221T>C XP_011514186.1:p.Tyr741His
XM_011515885.1:c.2218T>C XP_011514187.1:p.Tyr740His
XM_011515886.1:c.2197T>C XP_011514188.1:p.Tyr733His
XM_011515887.1:c.2194T>C XP_011514189.1:p.Tyr732His
XM_011515888.1:c.2194T>C XP_011514190.1:p.Tyr732His
XM_011515889.1:c.2155T>C XP_011514191.1:p.Tyr719His
XM_011515890.1:c.2128T>C XP_011514192.1:p.Tyr710His
XM_011515891.1:c.2122T>C XP_011514193.1:p.Tyr708His
XM_011515892.1:c.2119T>C XP_011514194.1:p.Tyr707His
XM_011515893.1:c.2113T>C XP_011514195.1:p.Tyr705His
XM_011515894.1:c.2104T>C XP_011514196.1:p.Tyr702His
XM_011515895.1:c.2101T>C XP_011514197.1:p.Tyr701His
XM_011515896.1:c.1987T>C XP_011514198.1:p.Tyr663His
XM_011515897.1:c.1894T>C XP_011514199.1:p.Tyr632His
XM_011515898.1:c.1894T>C XP_011514200.1:p.Tyr632His
XR_928101.1:n.515+2596A>G
XR_928102.1:n.722+2596A>G
XM_005249962.4:c.2230T>C XP_005250019.1:p.Tyr744His
XM_005249963.4:c.2203T>C XP_005250020.1:p.Tyr735His
XM_005249964.4:c.2077T>C XP_005250021.1:p.Tyr693His
XM_011515883.2:c.2245T>C XP_011514185.1:p.Tyr749His
XM_011515884.2:c.2221T>C XP_011514186.1:p.Tyr741His
XM_011515885.2:c.2218T>C XP_011514187.1:p.Tyr740His
XM_011515886.2:c.2197T>C XP_011514188.1:p.Tyr733His
XM_011515887.3:c.2194T>C XP_011514189.1:p.Tyr732His
XM_011515888.2:c.2194T>C XP_011514190.1:p.Tyr732His
XM_011515889.2:c.2155T>C XP_011514191.1:p.Tyr719His
XM_011515890.2:c.2128T>C XP_011514192.1:p.Tyr710His
XM_011515891.3:c.2122T>C XP_011514193.1:p.Tyr708His
XM_011515892.2:c.2119T>C XP_011514194.1:p.Tyr707His
XM_011515893.2:c.2113T>C XP_011514195.1:p.Tyr705His
XM_011515894.2:c.2104T>C XP_011514196.1:p.Tyr702His
XM_011515895.2:c.2101T>C XP_011514197.1:p.Tyr701His
XM_011515896.2:c.1987T>C XP_011514198.1:p.Tyr663His
XM_011515897.2:c.1894T>C XP_011514199.1:p.Tyr632His
XM_011515898.2:c.1894T>C XP_011514200.1:p.Tyr632His
XM_017011817.2:c.2245T>C XP_016867306.1:p.Tyr749His
XM_017011818.1:c.2182T>C XP_016867307.1:p.Tyr728His
XM_017011819.1:c.2104T>C XP_016867308.1:p.Tyr702His
XM_017011820.2:c.2077T>C XP_016867309.1:p.Tyr693His
XM_017011821.1:c.1879T>C XP_016867310.1:p.Tyr627His
XM_024446680.1:c.2107T>C XP_024302448.1:p.Tyr703His
XR_001744581.1:n.4595T>C
XR_002956413.1:n.5251T>C
XR_002956414.1:n.5711T>C
NM_001203247.2:c.2206T>C NP_001190176.1:p.Tyr736His
NM_001203248.2:c.2179T>C NP_001190177.1:p.Tyr727His
NM_001203249.2:c.2053T>C NP_001190178.1:p.Tyr685His
NM_004456.5:c.2221T>C MANE Select NP_004447.2:p.Tyr741His
NM_152998.3:c.2089T>C NP_694543.1:p.Tyr697His