Canonical Allele Identifier: CA645563935

Gene: EZH2

Linked Data

• COSMIC: COSM6023074

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807700del , CM000669.2:g.148807700del	GRCh38
NC_000007.13:g.148504792del , CM000669.1:g.148504792del	GRCh37
NC_000007.12:g.148135725del	NCBI36
NG_032043.1:g.81651del , LRG_531:g.81651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4103del
ENST00000682317.1:c.*1265del	ENSP00000508286.1:n.*1265del
ENST00000683292.1:c.*1099del	ENSP00000507503.1:n.*1099del
ENST00000683293.1:n.3922del
ENST00000683744.1:c.*1265del	ENSP00000506949.1:n.*1265del
ENST00000684300.1:c.*1265del	ENSP00000508407.1:n.*1265del
ENST00000684400.1:n.4190del
ENST00000684436.1:n.2519del
ENST00000684510.1:n.2581del
ENST00000320356.7:c.2203del MANE Select	ENSP00000320147.2:p.Gln735ArgfsTer5
ENST00000320356.6:c.2203del	ENSP00000320147.2:p.Gln735ArgfsTer5
ENST00000350995.6:c.2071del	ENSP00000223193.2:p.Gln691ArgfsTer5
ENST00000460911.5:c.2188del	ENSP00000419711.1:p.Gln730ArgfsTer5
ENST00000476773.5:c.2035del	ENSP00000419050.1:p.Gln679ArgfsTer5
ENST00000478654.5:c.2035del	ENSP00000417062.1:p.Gln679ArgfsTer5
ENST00000483967.5:c.2161del	ENSP00000419856.1:p.Gln721ArgfsTer5
ENST00000492143.5:c.*2193del	ENSP00000417377.1:n.*2193del
NM_001203247.1:c.2188del	NP_001190176.1:p.Gln730ArgfsTer5
NM_001203248.1:c.2161del	NP_001190177.1:p.Gln721ArgfsTer5
NM_001203249.1:c.2035del	NP_001190178.1:p.Gln679ArgfsTer5
NM_004456.4:c.2203del , LRG_531t1:c.2203del	NP_004447.2:p.Gln735ArgfsTer5
NM_152998.2:c.2071del	NP_694543.1:p.Gln691ArgfsTer5
XM_005249962.3:c.2212del	XP_005250019.1:p.Gln738ArgfsTer5
XM_005249963.3:c.2185del	XP_005250020.1:p.Gln729ArgfsTer5
XM_005249964.3:c.2059del	XP_005250021.1:p.Gln687ArgfsTer5
XM_011515883.1:c.2227del	XP_011514185.1:p.Gln743ArgfsTer5
XM_011515884.1:c.2203del	XP_011514186.1:p.Gln735ArgfsTer5
XM_011515885.1:c.2200del	XP_011514187.1:p.Gln734ArgfsTer5
XM_011515886.1:c.2179del	XP_011514188.1:p.Gln727ArgfsTer5
XM_011515887.1:c.2176del	XP_011514189.1:p.Gln726ArgfsTer5
XM_011515888.1:c.2176del	XP_011514190.1:p.Gln726ArgfsTer5
XM_011515889.1:c.2137del	XP_011514191.1:p.Gln713ArgfsTer5
XM_011515890.1:c.2110del	XP_011514192.1:p.Gln704ArgfsTer5
XM_011515891.1:c.2104del	XP_011514193.1:p.Gln702ArgfsTer5
XM_011515892.1:c.2101del	XP_011514194.1:p.Gln701ArgfsTer5
XM_011515893.1:c.2095del	XP_011514195.1:p.Gln699ArgfsTer5
XM_011515894.1:c.2086del	XP_011514196.1:p.Gln696ArgfsTer5
XM_011515895.1:c.2083del	XP_011514197.1:p.Gln695ArgfsTer5
XM_011515896.1:c.1969del	XP_011514198.1:p.Gln657ArgfsTer5
XM_011515897.1:c.1876del	XP_011514199.1:p.Gln626ArgfsTer5
XM_011515898.1:c.1876del	XP_011514200.1:p.Gln626ArgfsTer5
XR_928101.1:n.515+2615del
XR_928102.1:n.722+2615del
XM_005249962.4:c.2212del	XP_005250019.1:p.Gln738ArgfsTer5
XM_005249963.4:c.2185del	XP_005250020.1:p.Gln729ArgfsTer5
XM_005249964.4:c.2059del	XP_005250021.1:p.Gln687ArgfsTer5
XM_011515883.2:c.2227del	XP_011514185.1:p.Gln743ArgfsTer5
XM_011515884.2:c.2203del	XP_011514186.1:p.Gln735ArgfsTer5
XM_011515885.2:c.2200del	XP_011514187.1:p.Gln734ArgfsTer5
XM_011515886.2:c.2179del	XP_011514188.1:p.Gln727ArgfsTer5
XM_011515887.3:c.2176del	XP_011514189.1:p.Gln726ArgfsTer5
XM_011515888.2:c.2176del	XP_011514190.1:p.Gln726ArgfsTer5
XM_011515889.2:c.2137del	XP_011514191.1:p.Gln713ArgfsTer5
XM_011515890.2:c.2110del	XP_011514192.1:p.Gln704ArgfsTer5
XM_011515891.3:c.2104del	XP_011514193.1:p.Gln702ArgfsTer5
XM_011515892.2:c.2101del	XP_011514194.1:p.Gln701ArgfsTer5
XM_011515893.2:c.2095del	XP_011514195.1:p.Gln699ArgfsTer5
XM_011515894.2:c.2086del	XP_011514196.1:p.Gln696ArgfsTer5
XM_011515895.2:c.2083del	XP_011514197.1:p.Gln695ArgfsTer5
XM_011515896.2:c.1969del	XP_011514198.1:p.Gln657ArgfsTer5
XM_011515897.2:c.1876del	XP_011514199.1:p.Gln626ArgfsTer5
XM_011515898.2:c.1876del	XP_011514200.1:p.Gln626ArgfsTer5
XM_017011817.2:c.2227del	XP_016867306.1:p.Gln743ArgfsTer5
XM_017011818.1:c.2164del	XP_016867307.1:p.Gln722ArgfsTer5
XM_017011819.1:c.2086del	XP_016867308.1:p.Gln696ArgfsTer5
XM_017011820.2:c.2059del	XP_016867309.1:p.Gln687ArgfsTer5
XM_017011821.1:c.1861del	XP_016867310.1:p.Gln621ArgfsTer5
XM_024446680.1:c.2089del	XP_024302448.1:p.Gln697ArgfsTer5
XR_001744581.1:n.4577del
XR_002956413.1:n.5233del
XR_002956414.1:n.5693del
NM_001203247.2:c.2188del	NP_001190176.1:p.Gln730ArgfsTer5
NM_001203248.2:c.2161del	NP_001190177.1:p.Gln721ArgfsTer5
NM_001203249.2:c.2035del	NP_001190178.1:p.Gln679ArgfsTer5
NM_004456.5:c.2203del MANE Select	NP_004447.2:p.Gln735ArgfsTer5
NM_152998.3:c.2071del	NP_694543.1:p.Gln691ArgfsTer5