Canonical Allele Identifier: CA10588420
Gene: EZH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265527
ClinVar RCV Id: RCV000256045
dbSNP Id: rs886039601

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148810355G>C , CM000669.2:g.148810355G>C GRCh38
NC_000007.13:g.148507447G>C , CM000669.1:g.148507447G>C GRCh37
NC_000007.12:g.148138380G>C NCBI36
NG_032043.1:g.78995C>G , LRG_531:g.78995C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682263.1:n.3907C>G
ENST00000682317.1:c.*1069C>G ENSP00000508286.1:n.*1069C>G
ENST00000683292.1:c.*903C>G ENSP00000507503.1:n.*903C>G
ENST00000683293.1:n.3726C>G
ENST00000683744.1:c.*1069C>G ENSP00000506949.1:n.*1069C>G
ENST00000684300.1:c.*1069C>G ENSP00000508407.1:n.*1069C>G
ENST00000684400.1:n.2898C>G
ENST00000684436.1:n.2323C>G
ENST00000684510.1:n.2385C>G
ENST00000320356.7:c.2007C>G MANE Select ENSP00000320147.2:p.Ser669Arg
ENST00000320356.6:c.2007C>G ENSP00000320147.2:p.Ser669Arg
ENST00000350995.6:c.1875C>G ENSP00000223193.2:p.Ser625Arg
ENST00000460911.5:c.1992C>G ENSP00000419711.1:p.Ser664Arg
ENST00000469631.1:n.259C>G
ENST00000476773.5:c.1839C>G ENSP00000419050.1:p.Ser613Arg
ENST00000478654.5:c.1839C>G ENSP00000417062.1:p.Ser613Arg
ENST00000483967.5:c.1965C>G ENSP00000419856.1:p.Ser655Arg
ENST00000492143.5:c.*1997C>G ENSP00000417377.1:n.*1997C>G
NM_001203247.1:c.1992C>G NP_001190176.1:p.Ser664Arg
NM_001203248.1:c.1965C>G NP_001190177.1:p.Ser655Arg
NM_001203249.1:c.1839C>G NP_001190178.1:p.Ser613Arg
NM_004456.4:c.2007C>G , LRG_531t1:c.2007C>G NP_004447.2:p.Ser669Arg
NM_152998.2:c.1875C>G NP_694543.1:p.Ser625Arg
XM_005249962.3:c.2016C>G XP_005250019.1:p.Ser672Arg
XM_005249963.3:c.1989C>G XP_005250020.1:p.Ser663Arg
XM_005249964.3:c.1863C>G XP_005250021.1:p.Ser621Arg
XM_011515883.1:c.2031C>G XP_011514185.1:p.Ser677Arg
XM_011515884.1:c.2007C>G XP_011514186.1:p.Ser669Arg
XM_011515885.1:c.2004C>G XP_011514187.1:p.Ser668Arg
XM_011515886.1:c.1983C>G XP_011514188.1:p.Ser661Arg
XM_011515887.1:c.1980C>G XP_011514189.1:p.Ser660Arg
XM_011515888.1:c.1980C>G XP_011514190.1:p.Ser660Arg
XM_011515889.1:c.1941C>G XP_011514191.1:p.Ser647Arg
XM_011515890.1:c.1914C>G XP_011514192.1:p.Ser638Arg
XM_011515891.1:c.1908C>G XP_011514193.1:p.Ser636Arg
XM_011515892.1:c.1905C>G XP_011514194.1:p.Ser635Arg
XM_011515893.1:c.1899C>G XP_011514195.1:p.Ser633Arg
XM_011515894.1:c.1890C>G XP_011514196.1:p.Ser630Arg
XM_011515895.1:c.1887C>G XP_011514197.1:p.Ser629Arg
XM_011515896.1:c.1773C>G XP_011514198.1:p.Ser591Arg
XM_011515897.1:c.1680C>G XP_011514199.1:p.Ser560Arg
XM_011515898.1:c.1680C>G XP_011514200.1:p.Ser560Arg
XR_928101.1:n.515+5270G>C
XR_928102.1:n.722+5270G>C
XM_005249962.4:c.2016C>G XP_005250019.1:p.Ser672Arg
XM_005249963.4:c.1989C>G XP_005250020.1:p.Ser663Arg
XM_005249964.4:c.1863C>G XP_005250021.1:p.Ser621Arg
XM_011515883.2:c.2031C>G XP_011514185.1:p.Ser677Arg
XM_011515884.2:c.2007C>G XP_011514186.1:p.Ser669Arg
XM_011515885.2:c.2004C>G XP_011514187.1:p.Ser668Arg
XM_011515886.2:c.1983C>G XP_011514188.1:p.Ser661Arg
XM_011515887.3:c.1980C>G XP_011514189.1:p.Ser660Arg
XM_011515888.2:c.1980C>G XP_011514190.1:p.Ser660Arg
XM_011515889.2:c.1941C>G XP_011514191.1:p.Ser647Arg
XM_011515890.2:c.1914C>G XP_011514192.1:p.Ser638Arg
XM_011515891.3:c.1908C>G XP_011514193.1:p.Ser636Arg
XM_011515892.2:c.1905C>G XP_011514194.1:p.Ser635Arg
XM_011515893.2:c.1899C>G XP_011514195.1:p.Ser633Arg
XM_011515894.2:c.1890C>G XP_011514196.1:p.Ser630Arg
XM_011515895.2:c.1887C>G XP_011514197.1:p.Ser629Arg
XM_011515896.2:c.1773C>G XP_011514198.1:p.Ser591Arg
XM_011515897.2:c.1680C>G XP_011514199.1:p.Ser560Arg
XM_011515898.2:c.1680C>G XP_011514200.1:p.Ser560Arg
XM_017011817.2:c.2031C>G XP_016867306.1:p.Ser677Arg
XM_017011818.1:c.1968C>G XP_016867307.1:p.Ser656Arg
XM_017011819.1:c.1890C>G XP_016867308.1:p.Ser630Arg
XM_017011820.2:c.1863C>G XP_016867309.1:p.Ser621Arg
XM_017011821.1:c.1665C>G XP_016867310.1:p.Ser555Arg
XM_024446680.1:c.1893C>G XP_024302448.1:p.Ser631Arg
XR_001744581.1:n.4381C>G
XR_002956413.1:n.5037C>G
XR_002956414.1:n.5497C>G
NM_001203247.2:c.1992C>G NP_001190176.1:p.Ser664Arg
NM_001203248.2:c.1965C>G NP_001190177.1:p.Ser655Arg
NM_001203249.2:c.1839C>G NP_001190178.1:p.Ser613Arg
NM_004456.5:c.2007C>G MANE Select NP_004447.2:p.Ser669Arg
NM_152998.3:c.1875C>G NP_694543.1:p.Ser625Arg