Canonical Allele Identifier: CA172161

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148818100A>G , CM000669.2:g.148818100A>G	GRCh38
NC_000007.13:g.148515192A>G , CM000669.1:g.148515192A>G	GRCh37
NC_000007.12:g.148146125A>G	NCBI36
NG_032043.1:g.71250T>C , LRG_531:g.71250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.1232T>C
ENST00000682317.1:c.*79T>C	ENSP00000508286.1:n.*79T>C
ENST00000683292.1:c.675T>C	ENSP00000507503.1:p.Phe225=
ENST00000683744.1:c.*79T>C	ENSP00000506949.1:n.*79T>C
ENST00000684300.1:c.*79T>C	ENSP00000508407.1:n.*79T>C
ENST00000684436.1:n.405T>C
ENST00000684510.1:n.1374T>C
ENST00000320356.7:c.1017T>C MANE Select	ENSP00000320147.2:p.Phe339=
ENST00000320356.6:c.1017T>C	ENSP00000320147.2:p.Phe339=
ENST00000350995.6:c.885T>C	ENSP00000223193.2:p.Phe295=
ENST00000460911.5:c.1002T>C	ENSP00000419711.1:p.Phe334=
ENST00000476773.5:c.975T>C	ENSP00000419050.1:p.Phe325=
ENST00000478654.5:c.975T>C	ENSP00000417062.1:p.Phe325=
ENST00000483012.1:c.*828T>C	ENSP00000417704.1:n.*828T>C
ENST00000483967.5:c.975T>C	ENSP00000419856.1:p.Phe325=
ENST00000492143.5:c.*79T>C	ENSP00000417377.1:n.*79T>C
ENST00000498186.5:n.1133T>C
NM_001203247.1:c.1002T>C	NP_001190176.1:p.Phe334=
NM_001203248.1:c.975T>C	NP_001190177.1:p.Phe325=
NM_001203249.1:c.975T>C	NP_001190178.1:p.Phe325=
NM_004456.4:c.1017T>C , LRG_531t1:c.1017T>C	NP_004447.2:p.Phe339=
NM_152998.2:c.885T>C	NP_694543.1:p.Phe295=
XM_005249962.3:c.1026T>C	XP_005250019.1:p.Phe342=
XM_005249963.3:c.999T>C	XP_005250020.1:p.Phe333=
XM_005249964.3:c.999T>C	XP_005250021.1:p.Phe333=
XM_011515883.1:c.1041T>C	XP_011514185.1:p.Phe347=
XM_011515884.1:c.1017T>C	XP_011514186.1:p.Phe339=
XM_011515885.1:c.1014T>C	XP_011514187.1:p.Phe338=
XM_011515886.1:c.993T>C	XP_011514188.1:p.Phe331=
XM_011515887.1:c.990T>C	XP_011514189.1:p.Phe330=
XM_011515888.1:c.990T>C	XP_011514190.1:p.Phe330=
XM_011515889.1:c.951T>C	XP_011514191.1:p.Phe317=
XM_011515890.1:c.924T>C	XP_011514192.1:p.Phe308=
XM_011515891.1:c.918T>C	XP_011514193.1:p.Phe306=
XM_011515892.1:c.1041T>C	XP_011514194.1:p.Phe347=
XM_011515893.1:c.909T>C	XP_011514195.1:p.Phe303=
XM_011515894.1:c.900T>C	XP_011514196.1:p.Phe300=
XM_011515895.1:c.897T>C	XP_011514197.1:p.Phe299=
XM_011515896.1:c.909T>C	XP_011514198.1:p.Phe303=
XM_011515897.1:c.690T>C	XP_011514199.1:p.Phe230=
XM_011515898.1:c.690T>C	XP_011514200.1:p.Phe230=
XM_011515899.1:c.1041T>C	XP_011514201.1:p.Phe347=
XM_011515900.1:c.1041T>C	XP_011514202.1:p.Phe347=
XM_011515901.1:c.1041T>C	XP_011514203.1:p.Phe347=
XM_011515902.1:c.1041T>C	XP_011514204.1:p.Phe347=
XR_928101.1:n.516-5851A>G
XR_928102.1:n.723-5851A>G
XM_005249962.4:c.1026T>C	XP_005250019.1:p.Phe342=
XM_005249963.4:c.999T>C	XP_005250020.1:p.Phe333=
XM_005249964.4:c.999T>C	XP_005250021.1:p.Phe333=
XM_011515883.2:c.1041T>C	XP_011514185.1:p.Phe347=
XM_011515884.2:c.1017T>C	XP_011514186.1:p.Phe339=
XM_011515885.2:c.1014T>C	XP_011514187.1:p.Phe338=
XM_011515886.2:c.993T>C	XP_011514188.1:p.Phe331=
XM_011515887.3:c.990T>C	XP_011514189.1:p.Phe330=
XM_011515888.2:c.990T>C	XP_011514190.1:p.Phe330=
XM_011515889.2:c.951T>C	XP_011514191.1:p.Phe317=
XM_011515890.2:c.924T>C	XP_011514192.1:p.Phe308=
XM_011515891.3:c.918T>C	XP_011514193.1:p.Phe306=
XM_011515892.2:c.1041T>C	XP_011514194.1:p.Phe347=
XM_011515893.2:c.909T>C	XP_011514195.1:p.Phe303=
XM_011515894.2:c.900T>C	XP_011514196.1:p.Phe300=
XM_011515895.2:c.897T>C	XP_011514197.1:p.Phe299=
XM_011515896.2:c.909T>C	XP_011514198.1:p.Phe303=
XM_011515897.2:c.690T>C	XP_011514199.1:p.Phe230=
XM_011515898.2:c.690T>C	XP_011514200.1:p.Phe230=
XM_011515899.3:c.1041T>C	XP_011514201.1:p.Phe347=
XM_011515901.3:c.1041T>C	XP_011514203.1:p.Phe347=
XM_017011817.2:c.1041T>C	XP_016867306.1:p.Phe347=
XM_017011818.1:c.978T>C	XP_016867307.1:p.Phe326=
XM_017011819.1:c.1026T>C	XP_016867308.1:p.Phe342=
XM_017011820.2:c.873T>C	XP_016867309.1:p.Phe291=
XM_017011821.1:c.675T>C	XP_016867310.1:p.Phe225=
XM_024446680.1:c.903T>C	XP_024302448.1:p.Phe301=
XR_001744581.1:n.3656T>C
XR_002956413.1:n.3639T>C
XR_002956414.1:n.3656T>C
NM_001203247.2:c.1002T>C	NP_001190176.1:p.Phe334=
NM_001203248.2:c.975T>C	NP_001190177.1:p.Phe325=
NM_001203249.2:c.975T>C	NP_001190178.1:p.Phe325=
NM_004456.5:c.1017T>C MANE Select	NP_004447.2:p.Phe339=
NM_152998.3:c.885T>C	NP_694543.1:p.Phe295=