Canonical Allele Identifier: CA4547682

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809142G>A , CM000669.2:g.148809142G>A	GRCh38
NC_000007.13:g.148506234G>A , CM000669.1:g.148506234G>A	GRCh37
NC_000007.12:g.148137167G>A	NCBI36
NG_032043.1:g.80208C>T , LRG_531:g.80208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4024C>T
ENST00000682317.1:c.*1186C>T	ENSP00000508286.1:n.*1186C>T
ENST00000683292.1:c.*1020C>T	ENSP00000507503.1:n.*1020C>T
ENST00000683293.1:n.3843C>T
ENST00000683744.1:c.*1186C>T	ENSP00000506949.1:n.*1186C>T
ENST00000684300.1:c.*1186C>T	ENSP00000508407.1:n.*1186C>T
ENST00000684400.1:n.4111C>T
ENST00000684436.1:n.2440C>T
ENST00000684510.1:n.2502C>T
ENST00000320356.7:c.2124C>T MANE Select	ENSP00000320147.2:p.Asn708=
ENST00000320356.6:c.2124C>T	ENSP00000320147.2:p.Asn708=
ENST00000350995.6:c.1992C>T	ENSP00000223193.2:p.Asn664=
ENST00000460911.5:c.2109C>T	ENSP00000419711.1:p.Asn703=
ENST00000476773.5:c.1956C>T	ENSP00000419050.1:p.Asn652=
ENST00000478654.5:c.1956C>T	ENSP00000417062.1:p.Asn652=
ENST00000483967.5:c.2082C>T	ENSP00000419856.1:p.Asn694=
ENST00000492143.5:c.*2114C>T	ENSP00000417377.1:n.*2114C>T
NM_001203247.1:c.2109C>T	NP_001190176.1:p.Asn703=
NM_001203248.1:c.2082C>T	NP_001190177.1:p.Asn694=
NM_001203249.1:c.1956C>T	NP_001190178.1:p.Asn652=
NM_004456.4:c.2124C>T , LRG_531t1:c.2124C>T	NP_004447.2:p.Asn708=
NM_152998.2:c.1992C>T	NP_694543.1:p.Asn664=
XM_005249962.3:c.2133C>T	XP_005250019.1:p.Asn711=
XM_005249963.3:c.2106C>T	XP_005250020.1:p.Asn702=
XM_005249964.3:c.1980C>T	XP_005250021.1:p.Asn660=
XM_011515883.1:c.2148C>T	XP_011514185.1:p.Asn716=
XM_011515884.1:c.2124C>T	XP_011514186.1:p.Asn708=
XM_011515885.1:c.2121C>T	XP_011514187.1:p.Asn707=
XM_011515886.1:c.2100C>T	XP_011514188.1:p.Asn700=
XM_011515887.1:c.2097C>T	XP_011514189.1:p.Asn699=
XM_011515888.1:c.2097C>T	XP_011514190.1:p.Asn699=
XM_011515889.1:c.2058C>T	XP_011514191.1:p.Asn686=
XM_011515890.1:c.2031C>T	XP_011514192.1:p.Asn677=
XM_011515891.1:c.2025C>T	XP_011514193.1:p.Asn675=
XM_011515892.1:c.2022C>T	XP_011514194.1:p.Asn674=
XM_011515893.1:c.2016C>T	XP_011514195.1:p.Asn672=
XM_011515894.1:c.2007C>T	XP_011514196.1:p.Asn669=
XM_011515895.1:c.2004C>T	XP_011514197.1:p.Asn668=
XM_011515896.1:c.1890C>T	XP_011514198.1:p.Asn630=
XM_011515897.1:c.1797C>T	XP_011514199.1:p.Asn599=
XM_011515898.1:c.1797C>T	XP_011514200.1:p.Asn599=
XR_928101.1:n.515+4057G>A
XR_928102.1:n.722+4057G>A
XM_005249962.4:c.2133C>T	XP_005250019.1:p.Asn711=
XM_005249963.4:c.2106C>T	XP_005250020.1:p.Asn702=
XM_005249964.4:c.1980C>T	XP_005250021.1:p.Asn660=
XM_011515883.2:c.2148C>T	XP_011514185.1:p.Asn716=
XM_011515884.2:c.2124C>T	XP_011514186.1:p.Asn708=
XM_011515885.2:c.2121C>T	XP_011514187.1:p.Asn707=
XM_011515886.2:c.2100C>T	XP_011514188.1:p.Asn700=
XM_011515887.3:c.2097C>T	XP_011514189.1:p.Asn699=
XM_011515888.2:c.2097C>T	XP_011514190.1:p.Asn699=
XM_011515889.2:c.2058C>T	XP_011514191.1:p.Asn686=
XM_011515890.2:c.2031C>T	XP_011514192.1:p.Asn677=
XM_011515891.3:c.2025C>T	XP_011514193.1:p.Asn675=
XM_011515892.2:c.2022C>T	XP_011514194.1:p.Asn674=
XM_011515893.2:c.2016C>T	XP_011514195.1:p.Asn672=
XM_011515894.2:c.2007C>T	XP_011514196.1:p.Asn669=
XM_011515895.2:c.2004C>T	XP_011514197.1:p.Asn668=
XM_011515896.2:c.1890C>T	XP_011514198.1:p.Asn630=
XM_011515897.2:c.1797C>T	XP_011514199.1:p.Asn599=
XM_011515898.2:c.1797C>T	XP_011514200.1:p.Asn599=
XM_017011817.2:c.2148C>T	XP_016867306.1:p.Asn716=
XM_017011818.1:c.2085C>T	XP_016867307.1:p.Asn695=
XM_017011819.1:c.2007C>T	XP_016867308.1:p.Asn669=
XM_017011820.2:c.1980C>T	XP_016867309.1:p.Asn660=
XM_017011821.1:c.1782C>T	XP_016867310.1:p.Asn594=
XM_024446680.1:c.2010C>T	XP_024302448.1:p.Asn670=
XR_001744581.1:n.4498C>T
XR_002956413.1:n.5154C>T
XR_002956414.1:n.5614C>T
NM_001203247.2:c.2109C>T	NP_001190176.1:p.Asn703=
NM_001203248.2:c.2082C>T	NP_001190177.1:p.Asn694=
NM_001203249.2:c.1956C>T	NP_001190178.1:p.Asn652=
NM_004456.5:c.2124C>T MANE Select	NP_004447.2:p.Asn708=
NM_152998.3:c.1992C>T	NP_694543.1:p.Asn664=