Canonical Allele Identifier: CA369713597

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148814114G>T , CM000669.2:g.148814114G>T	GRCh38
NC_000007.13:g.148511206G>T , CM000669.1:g.148511206G>T	GRCh37
NC_000007.12:g.148142139G>T	NCBI36
NG_032043.1:g.75236C>A , LRG_531:g.75236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3596C>A
ENST00000682317.1:c.*758C>A	ENSP00000508286.1:n.*758C>A
ENST00000683292.1:c.*592C>A	ENSP00000507503.1:n.*592C>A
ENST00000683293.1:n.3415C>A
ENST00000683744.1:c.*758C>A	ENSP00000506949.1:n.*758C>A
ENST00000684300.1:c.*758C>A	ENSP00000508407.1:n.*758C>A
ENST00000684400.1:n.2587C>A
ENST00000684436.1:n.2012C>A
ENST00000684510.1:n.2074C>A
ENST00000320356.7:c.1696C>A MANE Select	ENSP00000320147.2:p.Arg566Ser
ENST00000320356.6:c.1696C>A	ENSP00000320147.2:p.Arg566Ser
ENST00000350995.6:c.1564C>A	ENSP00000223193.2:p.Arg522Ser
ENST00000460911.5:c.1681C>A	ENSP00000419711.1:p.Arg561Ser
ENST00000476773.5:c.1528C>A	ENSP00000419050.1:p.Arg510Ser
ENST00000478654.5:c.1528C>A	ENSP00000417062.1:p.Arg510Ser
ENST00000483967.5:c.1654C>A	ENSP00000419856.1:p.Arg552Ser
ENST00000492143.5:c.*1686C>A	ENSP00000417377.1:n.*1686C>A
NM_001203247.1:c.1681C>A	NP_001190176.1:p.Arg561Ser
NM_001203248.1:c.1654C>A	NP_001190177.1:p.Arg552Ser
NM_001203249.1:c.1528C>A	NP_001190178.1:p.Arg510Ser
NM_004456.4:c.1696C>A , LRG_531t1:c.1696C>A	NP_004447.2:p.Arg566Ser
NM_152998.2:c.1564C>A	NP_694543.1:p.Arg522Ser
XM_005249962.3:c.1705C>A	XP_005250019.1:p.Arg569Ser
XM_005249963.3:c.1678C>A	XP_005250020.1:p.Arg560Ser
XM_005249964.3:c.1552C>A	XP_005250021.1:p.Arg518Ser
XM_011515883.1:c.1720C>A	XP_011514185.1:p.Arg574Ser
XM_011515884.1:c.1696C>A	XP_011514186.1:p.Arg566Ser
XM_011515885.1:c.1693C>A	XP_011514187.1:p.Arg565Ser
XM_011515886.1:c.1672C>A	XP_011514188.1:p.Arg558Ser
XM_011515887.1:c.1669C>A	XP_011514189.1:p.Arg557Ser
XM_011515888.1:c.1669C>A	XP_011514190.1:p.Arg557Ser
XM_011515889.1:c.1630C>A	XP_011514191.1:p.Arg544Ser
XM_011515890.1:c.1603C>A	XP_011514192.1:p.Arg535Ser
XM_011515891.1:c.1597C>A	XP_011514193.1:p.Arg533Ser
XM_011515892.1:c.1594C>A	XP_011514194.1:p.Arg532Ser
XM_011515893.1:c.1588C>A	XP_011514195.1:p.Arg530Ser
XM_011515894.1:c.1579C>A	XP_011514196.1:p.Arg527Ser
XM_011515895.1:c.1576C>A	XP_011514197.1:p.Arg526Ser
XM_011515896.1:c.1462C>A	XP_011514198.1:p.Arg488Ser
XM_011515897.1:c.1369C>A	XP_011514199.1:p.Arg457Ser
XM_011515898.1:c.1369C>A	XP_011514200.1:p.Arg457Ser
XM_011515901.1:c.*30C>A	XP_011514203.1:n.*30C>A
XR_928101.1:n.515+9029G>T
XR_928102.1:n.722+9029G>T
XM_005249962.4:c.1705C>A	XP_005250019.1:p.Arg569Ser
XM_005249963.4:c.1678C>A	XP_005250020.1:p.Arg560Ser
XM_005249964.4:c.1552C>A	XP_005250021.1:p.Arg518Ser
XM_011515883.2:c.1720C>A	XP_011514185.1:p.Arg574Ser
XM_011515884.2:c.1696C>A	XP_011514186.1:p.Arg566Ser
XM_011515885.2:c.1693C>A	XP_011514187.1:p.Arg565Ser
XM_011515886.2:c.1672C>A	XP_011514188.1:p.Arg558Ser
XM_011515887.3:c.1669C>A	XP_011514189.1:p.Arg557Ser
XM_011515888.2:c.1669C>A	XP_011514190.1:p.Arg557Ser
XM_011515889.2:c.1630C>A	XP_011514191.1:p.Arg544Ser
XM_011515890.2:c.1603C>A	XP_011514192.1:p.Arg535Ser
XM_011515891.3:c.1597C>A	XP_011514193.1:p.Arg533Ser
XM_011515892.2:c.1594C>A	XP_011514194.1:p.Arg532Ser
XM_011515893.2:c.1588C>A	XP_011514195.1:p.Arg530Ser
XM_011515894.2:c.1579C>A	XP_011514196.1:p.Arg527Ser
XM_011515895.2:c.1576C>A	XP_011514197.1:p.Arg526Ser
XM_011515896.2:c.1462C>A	XP_011514198.1:p.Arg488Ser
XM_011515897.2:c.1369C>A	XP_011514199.1:p.Arg457Ser
XM_011515898.2:c.1369C>A	XP_011514200.1:p.Arg457Ser
XM_011515901.3:c.*30C>A	XP_011514203.1:n.*30C>A
XM_017011817.2:c.1720C>A	XP_016867306.1:p.Arg574Ser
XM_017011818.1:c.1657C>A	XP_016867307.1:p.Arg553Ser
XM_017011819.1:c.1579C>A	XP_016867308.1:p.Arg527Ser
XM_017011820.2:c.1552C>A	XP_016867309.1:p.Arg518Ser
XM_017011821.1:c.1354C>A	XP_016867310.1:p.Arg452Ser
XM_024446680.1:c.1582C>A	XP_024302448.1:p.Arg528Ser
XR_001744581.1:n.4070C>A
XR_002956413.1:n.4726C>A
XR_002956414.1:n.5186C>A
NM_001203247.2:c.1681C>A	NP_001190176.1:p.Arg561Ser
NM_001203248.2:c.1654C>A	NP_001190177.1:p.Arg552Ser
NM_001203249.2:c.1528C>A	NP_001190178.1:p.Arg510Ser
NM_004456.5:c.1696C>A MANE Select	NP_004447.2:p.Arg566Ser
NM_152998.3:c.1564C>A	NP_694543.1:p.Arg522Ser