Canonical Allele Identifier: CA4547659

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807676G>A , CM000669.2:g.148807676G>A	GRCh38
NC_000007.13:g.148504768G>A , CM000669.1:g.148504768G>A	GRCh37
NC_000007.12:g.148135701G>A	NCBI36
NG_032043.1:g.81674C>T , LRG_531:g.81674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4126C>T
ENST00000682317.1:c.*1288C>T	ENSP00000508286.1:n.*1288C>T
ENST00000683292.1:c.*1122C>T	ENSP00000507503.1:n.*1122C>T
ENST00000683293.1:n.3945C>T
ENST00000683744.1:c.*1288C>T	ENSP00000506949.1:n.*1288C>T
ENST00000684300.1:c.*1288C>T	ENSP00000508407.1:n.*1288C>T
ENST00000684400.1:n.4213C>T
ENST00000684436.1:n.2542C>T
ENST00000684510.1:n.2604C>T
ENST00000320356.7:c.2226C>T MANE Select	ENSP00000320147.2:p.Val742=
ENST00000320356.6:c.2226C>T	ENSP00000320147.2:p.Val742=
ENST00000350995.6:c.2094C>T	ENSP00000223193.2:p.Val698=
ENST00000460911.5:c.2211C>T	ENSP00000419711.1:p.Val737=
ENST00000476773.5:c.2058C>T	ENSP00000419050.1:p.Val686=
ENST00000478654.5:c.2058C>T	ENSP00000417062.1:p.Val686=
ENST00000483967.5:c.2184C>T	ENSP00000419856.1:p.Val728=
ENST00000492143.5:c.*2216C>T	ENSP00000417377.1:n.*2216C>T
NM_001203247.1:c.2211C>T	NP_001190176.1:p.Val737=
NM_001203248.1:c.2184C>T	NP_001190177.1:p.Val728=
NM_001203249.1:c.2058C>T	NP_001190178.1:p.Val686=
NM_004456.4:c.2226C>T , LRG_531t1:c.2226C>T	NP_004447.2:p.Val742=
NM_152998.2:c.2094C>T	NP_694543.1:p.Val698=
XM_005249962.3:c.2235C>T	XP_005250019.1:p.Val745=
XM_005249963.3:c.2208C>T	XP_005250020.1:p.Val736=
XM_005249964.3:c.2082C>T	XP_005250021.1:p.Val694=
XM_011515883.1:c.2250C>T	XP_011514185.1:p.Val750=
XM_011515884.1:c.2226C>T	XP_011514186.1:p.Val742=
XM_011515885.1:c.2223C>T	XP_011514187.1:p.Val741=
XM_011515886.1:c.2202C>T	XP_011514188.1:p.Val734=
XM_011515887.1:c.2199C>T	XP_011514189.1:p.Val733=
XM_011515888.1:c.2199C>T	XP_011514190.1:p.Val733=
XM_011515889.1:c.2160C>T	XP_011514191.1:p.Val720=
XM_011515890.1:c.2133C>T	XP_011514192.1:p.Val711=
XM_011515891.1:c.2127C>T	XP_011514193.1:p.Val709=
XM_011515892.1:c.2124C>T	XP_011514194.1:p.Val708=
XM_011515893.1:c.2118C>T	XP_011514195.1:p.Val706=
XM_011515894.1:c.2109C>T	XP_011514196.1:p.Val703=
XM_011515895.1:c.2106C>T	XP_011514197.1:p.Val702=
XM_011515896.1:c.1992C>T	XP_011514198.1:p.Val664=
XM_011515897.1:c.1899C>T	XP_011514199.1:p.Val633=
XM_011515898.1:c.1899C>T	XP_011514200.1:p.Val633=
XR_928101.1:n.515+2591G>A
XR_928102.1:n.722+2591G>A
XM_005249962.4:c.2235C>T	XP_005250019.1:p.Val745=
XM_005249963.4:c.2208C>T	XP_005250020.1:p.Val736=
XM_005249964.4:c.2082C>T	XP_005250021.1:p.Val694=
XM_011515883.2:c.2250C>T	XP_011514185.1:p.Val750=
XM_011515884.2:c.2226C>T	XP_011514186.1:p.Val742=
XM_011515885.2:c.2223C>T	XP_011514187.1:p.Val741=
XM_011515886.2:c.2202C>T	XP_011514188.1:p.Val734=
XM_011515887.3:c.2199C>T	XP_011514189.1:p.Val733=
XM_011515888.2:c.2199C>T	XP_011514190.1:p.Val733=
XM_011515889.2:c.2160C>T	XP_011514191.1:p.Val720=
XM_011515890.2:c.2133C>T	XP_011514192.1:p.Val711=
XM_011515891.3:c.2127C>T	XP_011514193.1:p.Val709=
XM_011515892.2:c.2124C>T	XP_011514194.1:p.Val708=
XM_011515893.2:c.2118C>T	XP_011514195.1:p.Val706=
XM_011515894.2:c.2109C>T	XP_011514196.1:p.Val703=
XM_011515895.2:c.2106C>T	XP_011514197.1:p.Val702=
XM_011515896.2:c.1992C>T	XP_011514198.1:p.Val664=
XM_011515897.2:c.1899C>T	XP_011514199.1:p.Val633=
XM_011515898.2:c.1899C>T	XP_011514200.1:p.Val633=
XM_017011817.2:c.2250C>T	XP_016867306.1:p.Val750=
XM_017011818.1:c.2187C>T	XP_016867307.1:p.Val729=
XM_017011819.1:c.2109C>T	XP_016867308.1:p.Val703=
XM_017011820.2:c.2082C>T	XP_016867309.1:p.Val694=
XM_017011821.1:c.1884C>T	XP_016867310.1:p.Val628=
XM_024446680.1:c.2112C>T	XP_024302448.1:p.Val704=
XR_001744581.1:n.4600C>T
XR_002956413.1:n.5256C>T
XR_002956414.1:n.5716C>T
NM_001203247.2:c.2211C>T	NP_001190176.1:p.Val737=
NM_001203248.2:c.2184C>T	NP_001190177.1:p.Val728=
NM_001203249.2:c.2058C>T	NP_001190178.1:p.Val686=
NM_004456.5:c.2226C>T MANE Select	NP_004447.2:p.Val742=
NM_152998.3:c.2094C>T	NP_694543.1:p.Val698=