Canonical Allele Identifier: CA369711805

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504772T>A (hg19) ; chr7:g.148807680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807680T>A , CM000669.2:g.148807680T>A	GRCh38
NC_000007.13:g.148504772T>A , CM000669.1:g.148504772T>A	GRCh37
NC_000007.12:g.148135705T>A	NCBI36
NG_032043.1:g.81670A>T , LRG_531:g.81670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4122A>T
ENST00000682317.1:c.*1284A>T	ENSP00000508286.1:n.*1284A>T
ENST00000683292.1:c.*1118A>T	ENSP00000507503.1:n.*1118A>T
ENST00000683293.1:n.3941A>T
ENST00000683744.1:c.*1284A>T	ENSP00000506949.1:n.*1284A>T
ENST00000684300.1:c.*1284A>T	ENSP00000508407.1:n.*1284A>T
ENST00000684400.1:n.4209A>T
ENST00000684436.1:n.2538A>T
ENST00000684510.1:n.2600A>T
ENST00000320356.7:c.2222A>T MANE Select	ENSP00000320147.2:p.Tyr741Phe
ENST00000320356.6:c.2222A>T	ENSP00000320147.2:p.Tyr741Phe
ENST00000350995.6:c.2090A>T	ENSP00000223193.2:p.Tyr697Phe
ENST00000460911.5:c.2207A>T	ENSP00000419711.1:p.Tyr736Phe
ENST00000476773.5:c.2054A>T	ENSP00000419050.1:p.Tyr685Phe
ENST00000478654.5:c.2054A>T	ENSP00000417062.1:p.Tyr685Phe
ENST00000483967.5:c.2180A>T	ENSP00000419856.1:p.Tyr727Phe
ENST00000492143.5:c.*2212A>T	ENSP00000417377.1:n.*2212A>T
NM_001203247.1:c.2207A>T	NP_001190176.1:p.Tyr736Phe
NM_001203248.1:c.2180A>T	NP_001190177.1:p.Tyr727Phe
NM_001203249.1:c.2054A>T	NP_001190178.1:p.Tyr685Phe
NM_004456.4:c.2222A>T , LRG_531t1:c.2222A>T	NP_004447.2:p.Tyr741Phe
NM_152998.2:c.2090A>T	NP_694543.1:p.Tyr697Phe
XM_005249962.3:c.2231A>T	XP_005250019.1:p.Tyr744Phe
XM_005249963.3:c.2204A>T	XP_005250020.1:p.Tyr735Phe
XM_005249964.3:c.2078A>T	XP_005250021.1:p.Tyr693Phe
XM_011515883.1:c.2246A>T	XP_011514185.1:p.Tyr749Phe
XM_011515884.1:c.2222A>T	XP_011514186.1:p.Tyr741Phe
XM_011515885.1:c.2219A>T	XP_011514187.1:p.Tyr740Phe
XM_011515886.1:c.2198A>T	XP_011514188.1:p.Tyr733Phe
XM_011515887.1:c.2195A>T	XP_011514189.1:p.Tyr732Phe
XM_011515888.1:c.2195A>T	XP_011514190.1:p.Tyr732Phe
XM_011515889.1:c.2156A>T	XP_011514191.1:p.Tyr719Phe
XM_011515890.1:c.2129A>T	XP_011514192.1:p.Tyr710Phe
XM_011515891.1:c.2123A>T	XP_011514193.1:p.Tyr708Phe
XM_011515892.1:c.2120A>T	XP_011514194.1:p.Tyr707Phe
XM_011515893.1:c.2114A>T	XP_011514195.1:p.Tyr705Phe
XM_011515894.1:c.2105A>T	XP_011514196.1:p.Tyr702Phe
XM_011515895.1:c.2102A>T	XP_011514197.1:p.Tyr701Phe
XM_011515896.1:c.1988A>T	XP_011514198.1:p.Tyr663Phe
XM_011515897.1:c.1895A>T	XP_011514199.1:p.Tyr632Phe
XM_011515898.1:c.1895A>T	XP_011514200.1:p.Tyr632Phe
XR_928101.1:n.515+2595T>A
XR_928102.1:n.722+2595T>A
XM_005249962.4:c.2231A>T	XP_005250019.1:p.Tyr744Phe
XM_005249963.4:c.2204A>T	XP_005250020.1:p.Tyr735Phe
XM_005249964.4:c.2078A>T	XP_005250021.1:p.Tyr693Phe
XM_011515883.2:c.2246A>T	XP_011514185.1:p.Tyr749Phe
XM_011515884.2:c.2222A>T	XP_011514186.1:p.Tyr741Phe
XM_011515885.2:c.2219A>T	XP_011514187.1:p.Tyr740Phe
XM_011515886.2:c.2198A>T	XP_011514188.1:p.Tyr733Phe
XM_011515887.3:c.2195A>T	XP_011514189.1:p.Tyr732Phe
XM_011515888.2:c.2195A>T	XP_011514190.1:p.Tyr732Phe
XM_011515889.2:c.2156A>T	XP_011514191.1:p.Tyr719Phe
XM_011515890.2:c.2129A>T	XP_011514192.1:p.Tyr710Phe
XM_011515891.3:c.2123A>T	XP_011514193.1:p.Tyr708Phe
XM_011515892.2:c.2120A>T	XP_011514194.1:p.Tyr707Phe
XM_011515893.2:c.2114A>T	XP_011514195.1:p.Tyr705Phe
XM_011515894.2:c.2105A>T	XP_011514196.1:p.Tyr702Phe
XM_011515895.2:c.2102A>T	XP_011514197.1:p.Tyr701Phe
XM_011515896.2:c.1988A>T	XP_011514198.1:p.Tyr663Phe
XM_011515897.2:c.1895A>T	XP_011514199.1:p.Tyr632Phe
XM_011515898.2:c.1895A>T	XP_011514200.1:p.Tyr632Phe
XM_017011817.2:c.2246A>T	XP_016867306.1:p.Tyr749Phe
XM_017011818.1:c.2183A>T	XP_016867307.1:p.Tyr728Phe
XM_017011819.1:c.2105A>T	XP_016867308.1:p.Tyr702Phe
XM_017011820.2:c.2078A>T	XP_016867309.1:p.Tyr693Phe
XM_017011821.1:c.1880A>T	XP_016867310.1:p.Tyr627Phe
XM_024446680.1:c.2108A>T	XP_024302448.1:p.Tyr703Phe
XR_001744581.1:n.4596A>T
XR_002956413.1:n.5252A>T
XR_002956414.1:n.5712A>T
NM_001203247.2:c.2207A>T	NP_001190176.1:p.Tyr736Phe
NM_001203248.2:c.2180A>T	NP_001190177.1:p.Tyr727Phe
NM_001203249.2:c.2054A>T	NP_001190178.1:p.Tyr685Phe
NM_004456.5:c.2222A>T MANE Select	NP_004447.2:p.Tyr741Phe
NM_152998.3:c.2090A>T	NP_694543.1:p.Tyr697Phe