Canonical Allele Identifier: CA369713648

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148814135G>T , CM000669.2:g.148814135G>T	GRCh38
NC_000007.13:g.148511227G>T , CM000669.1:g.148511227G>T	GRCh37
NC_000007.12:g.148142160G>T	NCBI36
NG_032043.1:g.75215C>A , LRG_531:g.75215C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004456.5:c.1675C>A MANE Select	NP_004447.2:p.Gln559Lys
ENST00000320356.7:c.1675C>A MANE Select	ENSP00000320147.2:p.Gln559Lys
NM_001203247.1:c.1660C>A	NP_001190176.1:p.Gln554Lys
NM_001203247.2:c.1660C>A	NP_001190176.1:p.Gln554Lys
NM_001203248.1:c.1633C>A	NP_001190177.1:p.Gln545Lys
NM_001203248.2:c.1633C>A	NP_001190177.1:p.Gln545Lys
NM_001203249.1:c.1507C>A	NP_001190178.1:p.Gln503Lys
NM_001203249.2:c.1507C>A	NP_001190178.1:p.Gln503Lys
NM_004456.4:c.1675C>A , LRG_531t1:c.1675C>A	NP_004447.2:p.Gln559Lys
NM_152998.2:c.1543C>A	NP_694543.1:p.Gln515Lys
NM_152998.3:c.1543C>A	NP_694543.1:p.Gln515Lys
ENST00000320356.6:c.1675C>A	ENSP00000320147.2:p.Gln559Lys
ENST00000350995.6:c.1543C>A	ENSP00000223193.2:p.Gln515Lys
ENST00000460911.5:c.1660C>A	ENSP00000419711.1:p.Gln554Lys
ENST00000476773.5:c.1507C>A	ENSP00000419050.1:p.Gln503Lys
ENST00000478654.5:c.1507C>A	ENSP00000417062.1:p.Gln503Lys
ENST00000483967.5:c.1633C>A	ENSP00000419856.1:p.Gln545Lys
ENST00000492143.5:c.*1665C>A	ENSP00000417377.1:n.*1665C>A
ENST00000682263.1:n.3575C>A
ENST00000682317.1:c.*737C>A	ENSP00000508286.1:n.*737C>A
ENST00000683292.1:c.*571C>A	ENSP00000507503.1:n.*571C>A
ENST00000683293.1:n.3394C>A
ENST00000683744.1:c.*737C>A	ENSP00000506949.1:n.*737C>A
ENST00000684300.1:c.*737C>A	ENSP00000508407.1:n.*737C>A
ENST00000684400.1:n.2566C>A
ENST00000684436.1:n.1991C>A
ENST00000684510.1:n.2053C>A
XM_005249962.3:c.1684C>A	XP_005250019.1:p.Gln562Lys
XM_005249962.4:c.1684C>A	XP_005250019.1:p.Gln562Lys
XM_005249963.3:c.1657C>A	XP_005250020.1:p.Gln553Lys
XM_005249963.4:c.1657C>A	XP_005250020.1:p.Gln553Lys
XM_005249964.3:c.1531C>A	XP_005250021.1:p.Gln511Lys
XM_005249964.4:c.1531C>A	XP_005250021.1:p.Gln511Lys
XM_011515883.1:c.1699C>A	XP_011514185.1:p.Gln567Lys
XM_011515883.2:c.1699C>A	XP_011514185.1:p.Gln567Lys
XM_011515884.1:c.1675C>A	XP_011514186.1:p.Gln559Lys
XM_011515884.2:c.1675C>A	XP_011514186.1:p.Gln559Lys
XM_011515885.1:c.1672C>A	XP_011514187.1:p.Gln558Lys
XM_011515885.2:c.1672C>A	XP_011514187.1:p.Gln558Lys
XM_011515886.1:c.1651C>A	XP_011514188.1:p.Gln551Lys
XM_011515886.2:c.1651C>A	XP_011514188.1:p.Gln551Lys
XM_011515887.1:c.1648C>A	XP_011514189.1:p.Gln550Lys
XM_011515887.3:c.1648C>A	XP_011514189.1:p.Gln550Lys
XM_011515888.1:c.1648C>A	XP_011514190.1:p.Gln550Lys
XM_011515888.2:c.1648C>A	XP_011514190.1:p.Gln550Lys
XM_011515889.1:c.1609C>A	XP_011514191.1:p.Gln537Lys
XM_011515889.2:c.1609C>A	XP_011514191.1:p.Gln537Lys
XM_011515890.1:c.1582C>A	XP_011514192.1:p.Gln528Lys
XM_011515890.2:c.1582C>A	XP_011514192.1:p.Gln528Lys
XM_011515891.1:c.1576C>A	XP_011514193.1:p.Gln526Lys
XM_011515891.3:c.1576C>A	XP_011514193.1:p.Gln526Lys
XM_011515892.1:c.1573C>A	XP_011514194.1:p.Gln525Lys
XM_011515892.2:c.1573C>A	XP_011514194.1:p.Gln525Lys
XM_011515893.1:c.1567C>A	XP_011514195.1:p.Gln523Lys
XM_011515893.2:c.1567C>A	XP_011514195.1:p.Gln523Lys
XM_011515894.1:c.1558C>A	XP_011514196.1:p.Gln520Lys
XM_011515894.2:c.1558C>A	XP_011514196.1:p.Gln520Lys
XM_011515895.1:c.1555C>A	XP_011514197.1:p.Gln519Lys
XM_011515895.2:c.1555C>A	XP_011514197.1:p.Gln519Lys
XM_011515896.1:c.1441C>A	XP_011514198.1:p.Gln481Lys
XM_011515896.2:c.1441C>A	XP_011514198.1:p.Gln481Lys
XM_011515897.1:c.1348C>A	XP_011514199.1:p.Gln450Lys
XM_011515897.2:c.1348C>A	XP_011514199.1:p.Gln450Lys
XM_011515898.1:c.1348C>A	XP_011514200.1:p.Gln450Lys
XM_011515898.2:c.1348C>A	XP_011514200.1:p.Gln450Lys
XM_011515901.1:c.*9C>A	XP_011514203.1:n.*9C>A
XM_011515901.3:c.*9C>A	XP_011514203.1:n.*9C>A
XM_017011817.2:c.1699C>A	XP_016867306.1:p.Gln567Lys
XM_017011818.1:c.1636C>A	XP_016867307.1:p.Gln546Lys
XM_017011819.1:c.1558C>A	XP_016867308.1:p.Gln520Lys
XM_017011820.2:c.1531C>A	XP_016867309.1:p.Gln511Lys
XM_017011821.1:c.1333C>A	XP_016867310.1:p.Gln445Lys
XM_024446680.1:c.1561C>A	XP_024302448.1:p.Gln521Lys
XR_001744581.1:n.4049C>A
XR_002956413.1:n.4705C>A
XR_002956414.1:n.5165C>A
XR_928101.1:n.515+9050G>T
XR_928102.1:n.722+9050G>T