Canonical Allele Identifier: CA369713013

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811625C>G , CM000669.2:g.148811625C>G	GRCh38
NC_000007.13:g.148508717C>G , CM000669.1:g.148508717C>G	GRCh37
NC_000007.12:g.148139650C>G	NCBI36
NG_032043.1:g.77725G>C , LRG_531:g.77725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3847G>C
ENST00000682317.1:c.*1009G>C	ENSP00000508286.1:n.*1009G>C
ENST00000683292.1:c.*843G>C	ENSP00000507503.1:n.*843G>C
ENST00000683293.1:n.3666G>C
ENST00000683744.1:c.*1009G>C	ENSP00000506949.1:n.*1009G>C
ENST00000684300.1:c.*1009G>C	ENSP00000508407.1:n.*1009G>C
ENST00000684400.1:n.2838G>C
ENST00000684436.1:n.2263G>C
ENST00000684510.1:n.2325G>C
ENST00000320356.7:c.1947G>C MANE Select	ENSP00000320147.2:p.Glu649Asp
ENST00000320356.6:c.1947G>C	ENSP00000320147.2:p.Glu649Asp
ENST00000350995.6:c.1815G>C	ENSP00000223193.2:p.Glu605Asp
ENST00000460911.5:c.1932G>C	ENSP00000419711.1:p.Glu644Asp
ENST00000469631.1:n.199G>C
ENST00000476773.5:c.1779G>C	ENSP00000419050.1:p.Glu593Asp
ENST00000478654.5:c.1779G>C	ENSP00000417062.1:p.Glu593Asp
ENST00000483967.5:c.1905G>C	ENSP00000419856.1:p.Glu635Asp
ENST00000492143.5:c.*1937G>C	ENSP00000417377.1:n.*1937G>C
NM_001203247.1:c.1932G>C	NP_001190176.1:p.Glu644Asp
NM_001203248.1:c.1905G>C	NP_001190177.1:p.Glu635Asp
NM_001203249.1:c.1779G>C	NP_001190178.1:p.Glu593Asp
NM_004456.4:c.1947G>C , LRG_531t1:c.1947G>C	NP_004447.2:p.Glu649Asp
NM_152998.2:c.1815G>C	NP_694543.1:p.Glu605Asp
XM_005249962.3:c.1956G>C	XP_005250019.1:p.Glu652Asp
XM_005249963.3:c.1929G>C	XP_005250020.1:p.Glu643Asp
XM_005249964.3:c.1803G>C	XP_005250021.1:p.Glu601Asp
XM_011515883.1:c.1971G>C	XP_011514185.1:p.Glu657Asp
XM_011515884.1:c.1947G>C	XP_011514186.1:p.Glu649Asp
XM_011515885.1:c.1944G>C	XP_011514187.1:p.Glu648Asp
XM_011515886.1:c.1923G>C	XP_011514188.1:p.Glu641Asp
XM_011515887.1:c.1920G>C	XP_011514189.1:p.Glu640Asp
XM_011515888.1:c.1920G>C	XP_011514190.1:p.Glu640Asp
XM_011515889.1:c.1881G>C	XP_011514191.1:p.Glu627Asp
XM_011515890.1:c.1854G>C	XP_011514192.1:p.Glu618Asp
XM_011515891.1:c.1848G>C	XP_011514193.1:p.Glu616Asp
XM_011515892.1:c.1845G>C	XP_011514194.1:p.Glu615Asp
XM_011515893.1:c.1839G>C	XP_011514195.1:p.Glu613Asp
XM_011515894.1:c.1830G>C	XP_011514196.1:p.Glu610Asp
XM_011515895.1:c.1827G>C	XP_011514197.1:p.Glu609Asp
XM_011515896.1:c.1713G>C	XP_011514198.1:p.Glu571Asp
XM_011515897.1:c.1620G>C	XP_011514199.1:p.Glu540Asp
XM_011515898.1:c.1620G>C	XP_011514200.1:p.Glu540Asp
XR_928101.1:n.515+6540C>G
XR_928102.1:n.722+6540C>G
XM_005249962.4:c.1956G>C	XP_005250019.1:p.Glu652Asp
XM_005249963.4:c.1929G>C	XP_005250020.1:p.Glu643Asp
XM_005249964.4:c.1803G>C	XP_005250021.1:p.Glu601Asp
XM_011515883.2:c.1971G>C	XP_011514185.1:p.Glu657Asp
XM_011515884.2:c.1947G>C	XP_011514186.1:p.Glu649Asp
XM_011515885.2:c.1944G>C	XP_011514187.1:p.Glu648Asp
XM_011515886.2:c.1923G>C	XP_011514188.1:p.Glu641Asp
XM_011515887.3:c.1920G>C	XP_011514189.1:p.Glu640Asp
XM_011515888.2:c.1920G>C	XP_011514190.1:p.Glu640Asp
XM_011515889.2:c.1881G>C	XP_011514191.1:p.Glu627Asp
XM_011515890.2:c.1854G>C	XP_011514192.1:p.Glu618Asp
XM_011515891.3:c.1848G>C	XP_011514193.1:p.Glu616Asp
XM_011515892.2:c.1845G>C	XP_011514194.1:p.Glu615Asp
XM_011515893.2:c.1839G>C	XP_011514195.1:p.Glu613Asp
XM_011515894.2:c.1830G>C	XP_011514196.1:p.Glu610Asp
XM_011515895.2:c.1827G>C	XP_011514197.1:p.Glu609Asp
XM_011515896.2:c.1713G>C	XP_011514198.1:p.Glu571Asp
XM_011515897.2:c.1620G>C	XP_011514199.1:p.Glu540Asp
XM_011515898.2:c.1620G>C	XP_011514200.1:p.Glu540Asp
XM_017011817.2:c.1971G>C	XP_016867306.1:p.Glu657Asp
XM_017011818.1:c.1908G>C	XP_016867307.1:p.Glu636Asp
XM_017011819.1:c.1830G>C	XP_016867308.1:p.Glu610Asp
XM_017011820.2:c.1803G>C	XP_016867309.1:p.Glu601Asp
XM_017011821.1:c.1605G>C	XP_016867310.1:p.Glu535Asp
XM_024446680.1:c.1833G>C	XP_024302448.1:p.Glu611Asp
XR_001744581.1:n.4321G>C
XR_002956413.1:n.4977G>C
XR_002956414.1:n.5437G>C
NM_001203247.2:c.1932G>C	NP_001190176.1:p.Glu644Asp
NM_001203248.2:c.1905G>C	NP_001190177.1:p.Glu635Asp
NM_001203249.2:c.1779G>C	NP_001190178.1:p.Glu593Asp
NM_004456.5:c.1947G>C MANE Select	NP_004447.2:p.Glu649Asp
NM_152998.3:c.1815G>C	NP_694543.1:p.Glu605Asp