Canonical Allele Identifier: CA369713485

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148814066C>T , CM000669.2:g.148814066C>T	GRCh38
NC_000007.13:g.148511158C>T , CM000669.1:g.148511158C>T	GRCh37
NC_000007.12:g.148142091C>T	NCBI36
NG_032043.1:g.75284G>A , LRG_531:g.75284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3644G>A
ENST00000682317.1:c.*806G>A	ENSP00000508286.1:n.*806G>A
ENST00000683292.1:c.*640G>A	ENSP00000507503.1:n.*640G>A
ENST00000683293.1:n.3463G>A
ENST00000683744.1:c.*806G>A	ENSP00000506949.1:n.*806G>A
ENST00000684300.1:c.*806G>A	ENSP00000508407.1:n.*806G>A
ENST00000684400.1:n.2635G>A
ENST00000684436.1:n.2060G>A
ENST00000684510.1:n.2122G>A
ENST00000320356.7:c.1744G>A MANE Select	ENSP00000320147.2:p.Val582Ile
ENST00000320356.6:c.1744G>A	ENSP00000320147.2:p.Val582Ile
ENST00000350995.6:c.1612G>A	ENSP00000223193.2:p.Val538Ile
ENST00000460911.5:c.1729G>A	ENSP00000419711.1:p.Val577Ile
ENST00000476773.5:c.1576G>A	ENSP00000419050.1:p.Val526Ile
ENST00000478654.5:c.1576G>A	ENSP00000417062.1:p.Val526Ile
ENST00000483967.5:c.1702G>A	ENSP00000419856.1:p.Val568Ile
ENST00000492143.5:c.*1734G>A	ENSP00000417377.1:n.*1734G>A
NM_001203247.1:c.1729G>A	NP_001190176.1:p.Val577Ile
NM_001203248.1:c.1702G>A	NP_001190177.1:p.Val568Ile
NM_001203249.1:c.1576G>A	NP_001190178.1:p.Val526Ile
NM_004456.4:c.1744G>A , LRG_531t1:c.1744G>A	NP_004447.2:p.Val582Ile
NM_152998.2:c.1612G>A	NP_694543.1:p.Val538Ile
XM_005249962.3:c.1753G>A	XP_005250019.1:p.Val585Ile
XM_005249963.3:c.1726G>A	XP_005250020.1:p.Val576Ile
XM_005249964.3:c.1600G>A	XP_005250021.1:p.Val534Ile
XM_011515883.1:c.1768G>A	XP_011514185.1:p.Val590Ile
XM_011515884.1:c.1744G>A	XP_011514186.1:p.Val582Ile
XM_011515885.1:c.1741G>A	XP_011514187.1:p.Val581Ile
XM_011515886.1:c.1720G>A	XP_011514188.1:p.Val574Ile
XM_011515887.1:c.1717G>A	XP_011514189.1:p.Val573Ile
XM_011515888.1:c.1717G>A	XP_011514190.1:p.Val573Ile
XM_011515889.1:c.1678G>A	XP_011514191.1:p.Val560Ile
XM_011515890.1:c.1651G>A	XP_011514192.1:p.Val551Ile
XM_011515891.1:c.1645G>A	XP_011514193.1:p.Val549Ile
XM_011515892.1:c.1642G>A	XP_011514194.1:p.Val548Ile
XM_011515893.1:c.1636G>A	XP_011514195.1:p.Val546Ile
XM_011515894.1:c.1627G>A	XP_011514196.1:p.Val543Ile
XM_011515895.1:c.1624G>A	XP_011514197.1:p.Val542Ile
XM_011515896.1:c.1510G>A	XP_011514198.1:p.Val504Ile
XM_011515897.1:c.1417G>A	XP_011514199.1:p.Val473Ile
XM_011515898.1:c.1417G>A	XP_011514200.1:p.Val473Ile
XM_011515901.1:c.*78G>A	XP_011514203.1:n.*78G>A
XR_928101.1:n.515+8981C>T
XR_928102.1:n.722+8981C>T
XM_005249962.4:c.1753G>A	XP_005250019.1:p.Val585Ile
XM_005249963.4:c.1726G>A	XP_005250020.1:p.Val576Ile
XM_005249964.4:c.1600G>A	XP_005250021.1:p.Val534Ile
XM_011515883.2:c.1768G>A	XP_011514185.1:p.Val590Ile
XM_011515884.2:c.1744G>A	XP_011514186.1:p.Val582Ile
XM_011515885.2:c.1741G>A	XP_011514187.1:p.Val581Ile
XM_011515886.2:c.1720G>A	XP_011514188.1:p.Val574Ile
XM_011515887.3:c.1717G>A	XP_011514189.1:p.Val573Ile
XM_011515888.2:c.1717G>A	XP_011514190.1:p.Val573Ile
XM_011515889.2:c.1678G>A	XP_011514191.1:p.Val560Ile
XM_011515890.2:c.1651G>A	XP_011514192.1:p.Val551Ile
XM_011515891.3:c.1645G>A	XP_011514193.1:p.Val549Ile
XM_011515892.2:c.1642G>A	XP_011514194.1:p.Val548Ile
XM_011515893.2:c.1636G>A	XP_011514195.1:p.Val546Ile
XM_011515894.2:c.1627G>A	XP_011514196.1:p.Val543Ile
XM_011515895.2:c.1624G>A	XP_011514197.1:p.Val542Ile
XM_011515896.2:c.1510G>A	XP_011514198.1:p.Val504Ile
XM_011515897.2:c.1417G>A	XP_011514199.1:p.Val473Ile
XM_011515898.2:c.1417G>A	XP_011514200.1:p.Val473Ile
XM_011515901.3:c.*78G>A	XP_011514203.1:n.*78G>A
XM_017011817.2:c.1768G>A	XP_016867306.1:p.Val590Ile
XM_017011818.1:c.1705G>A	XP_016867307.1:p.Val569Ile
XM_017011819.1:c.1627G>A	XP_016867308.1:p.Val543Ile
XM_017011820.2:c.1600G>A	XP_016867309.1:p.Val534Ile
XM_017011821.1:c.1402G>A	XP_016867310.1:p.Val468Ile
XM_024446680.1:c.1630G>A	XP_024302448.1:p.Val544Ile
XR_001744581.1:n.4118G>A
XR_002956413.1:n.4774G>A
XR_002956414.1:n.5234G>A
NM_001203247.2:c.1729G>A	NP_001190176.1:p.Val577Ile
NM_001203248.2:c.1702G>A	NP_001190177.1:p.Val568Ile
NM_001203249.2:c.1576G>A	NP_001190178.1:p.Val526Ile
NM_004456.5:c.1744G>A MANE Select	NP_004447.2:p.Val582Ile
NM_152998.3:c.1612G>A	NP_694543.1:p.Val538Ile