Canonical Allele Identifier: CA4547679

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809094G>A , CM000669.2:g.148809094G>A	GRCh38
NC_000007.13:g.148506186G>A , CM000669.1:g.148506186G>A	GRCh37
NC_000007.12:g.148137119G>A	NCBI36
NG_032043.1:g.80256C>T , LRG_531:g.80256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4072C>T
ENST00000682317.1:c.*1234C>T	ENSP00000508286.1:n.*1234C>T
ENST00000683292.1:c.*1068C>T	ENSP00000507503.1:n.*1068C>T
ENST00000683293.1:n.3891C>T
ENST00000683744.1:c.*1234C>T	ENSP00000506949.1:n.*1234C>T
ENST00000684300.1:c.*1234C>T	ENSP00000508407.1:n.*1234C>T
ENST00000684400.1:n.4159C>T
ENST00000684436.1:n.2488C>T
ENST00000684510.1:n.2550C>T
ENST00000320356.7:c.2172C>T MANE Select	ENSP00000320147.2:p.Gly724=
ENST00000320356.6:c.2172C>T	ENSP00000320147.2:p.Gly724=
ENST00000350995.6:c.2040C>T	ENSP00000223193.2:p.Gly680=
ENST00000460911.5:c.2157C>T	ENSP00000419711.1:p.Gly719=
ENST00000476773.5:c.2004C>T	ENSP00000419050.1:p.Gly668=
ENST00000478654.5:c.2004C>T	ENSP00000417062.1:p.Gly668=
ENST00000483967.5:c.2130C>T	ENSP00000419856.1:p.Gly710=
ENST00000492143.5:c.*2162C>T	ENSP00000417377.1:n.*2162C>T
NM_001203247.1:c.2157C>T	NP_001190176.1:p.Gly719=
NM_001203248.1:c.2130C>T	NP_001190177.1:p.Gly710=
NM_001203249.1:c.2004C>T	NP_001190178.1:p.Gly668=
NM_004456.4:c.2172C>T , LRG_531t1:c.2172C>T	NP_004447.2:p.Gly724=
NM_152998.2:c.2040C>T	NP_694543.1:p.Gly680=
XM_005249962.3:c.2181C>T	XP_005250019.1:p.Gly727=
XM_005249963.3:c.2154C>T	XP_005250020.1:p.Gly718=
XM_005249964.3:c.2028C>T	XP_005250021.1:p.Gly676=
XM_011515883.1:c.2196C>T	XP_011514185.1:p.Gly732=
XM_011515884.1:c.2172C>T	XP_011514186.1:p.Gly724=
XM_011515885.1:c.2169C>T	XP_011514187.1:p.Gly723=
XM_011515886.1:c.2148C>T	XP_011514188.1:p.Gly716=
XM_011515887.1:c.2145C>T	XP_011514189.1:p.Gly715=
XM_011515888.1:c.2145C>T	XP_011514190.1:p.Gly715=
XM_011515889.1:c.2106C>T	XP_011514191.1:p.Gly702=
XM_011515890.1:c.2079C>T	XP_011514192.1:p.Gly693=
XM_011515891.1:c.2073C>T	XP_011514193.1:p.Gly691=
XM_011515892.1:c.2070C>T	XP_011514194.1:p.Gly690=
XM_011515893.1:c.2064C>T	XP_011514195.1:p.Gly688=
XM_011515894.1:c.2055C>T	XP_011514196.1:p.Gly685=
XM_011515895.1:c.2052C>T	XP_011514197.1:p.Gly684=
XM_011515896.1:c.1938C>T	XP_011514198.1:p.Gly646=
XM_011515897.1:c.1845C>T	XP_011514199.1:p.Gly615=
XM_011515898.1:c.1845C>T	XP_011514200.1:p.Gly615=
XR_928101.1:n.515+4009G>A
XR_928102.1:n.722+4009G>A
XM_005249962.4:c.2181C>T	XP_005250019.1:p.Gly727=
XM_005249963.4:c.2154C>T	XP_005250020.1:p.Gly718=
XM_005249964.4:c.2028C>T	XP_005250021.1:p.Gly676=
XM_011515883.2:c.2196C>T	XP_011514185.1:p.Gly732=
XM_011515884.2:c.2172C>T	XP_011514186.1:p.Gly724=
XM_011515885.2:c.2169C>T	XP_011514187.1:p.Gly723=
XM_011515886.2:c.2148C>T	XP_011514188.1:p.Gly716=
XM_011515887.3:c.2145C>T	XP_011514189.1:p.Gly715=
XM_011515888.2:c.2145C>T	XP_011514190.1:p.Gly715=
XM_011515889.2:c.2106C>T	XP_011514191.1:p.Gly702=
XM_011515890.2:c.2079C>T	XP_011514192.1:p.Gly693=
XM_011515891.3:c.2073C>T	XP_011514193.1:p.Gly691=
XM_011515892.2:c.2070C>T	XP_011514194.1:p.Gly690=
XM_011515893.2:c.2064C>T	XP_011514195.1:p.Gly688=
XM_011515894.2:c.2055C>T	XP_011514196.1:p.Gly685=
XM_011515895.2:c.2052C>T	XP_011514197.1:p.Gly684=
XM_011515896.2:c.1938C>T	XP_011514198.1:p.Gly646=
XM_011515897.2:c.1845C>T	XP_011514199.1:p.Gly615=
XM_011515898.2:c.1845C>T	XP_011514200.1:p.Gly615=
XM_017011817.2:c.2196C>T	XP_016867306.1:p.Gly732=
XM_017011818.1:c.2133C>T	XP_016867307.1:p.Gly711=
XM_017011819.1:c.2055C>T	XP_016867308.1:p.Gly685=
XM_017011820.2:c.2028C>T	XP_016867309.1:p.Gly676=
XM_017011821.1:c.1830C>T	XP_016867310.1:p.Gly610=
XM_024446680.1:c.2058C>T	XP_024302448.1:p.Gly686=
XR_001744581.1:n.4546C>T
XR_002956413.1:n.5202C>T
XR_002956414.1:n.5662C>T
NM_001203247.2:c.2157C>T	NP_001190176.1:p.Gly719=
NM_001203248.2:c.2130C>T	NP_001190177.1:p.Gly710=
NM_001203249.2:c.2004C>T	NP_001190178.1:p.Gly668=
NM_004456.5:c.2172C>T MANE Select	NP_004447.2:p.Gly724=
NM_152998.3:c.2040C>T	NP_694543.1:p.Gly680=