Canonical Allele Identifier: CA458345613

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807652-G-T
• MyVariant Identifiers: chr7:g.148504744G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807652G>T , CM000669.2:g.148807652G>T	GRCh38
NC_000007.13:g.148504744G>T , CM000669.1:g.148504744G>T	GRCh37
NC_000007.12:g.148135677G>T	NCBI36
NG_032043.1:g.81698C>A , LRG_531:g.81698C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4150C>A
ENST00000682317.1:c.*1312C>A	ENSP00000508286.1:n.*1312C>A
ENST00000683292.1:c.*1146C>A	ENSP00000507503.1:n.*1146C>A
ENST00000683293.1:n.3969C>A
ENST00000683744.1:c.*1312C>A	ENSP00000506949.1:n.*1312C>A
ENST00000684300.1:c.*1312C>A	ENSP00000508407.1:n.*1312C>A
ENST00000684400.1:n.4237C>A
ENST00000684436.1:n.2566C>A
ENST00000684510.1:n.2628C>A
ENST00000320356.7:c.2250C>A MANE Select	ENSP00000320147.2:p.Ile750=
ENST00000320356.6:c.2250C>A	ENSP00000320147.2:p.Ile750=
ENST00000350995.6:c.2118C>A	ENSP00000223193.2:p.Ile706=
ENST00000460911.5:c.2235C>A	ENSP00000419711.1:p.Ile745=
ENST00000476773.5:c.2082C>A	ENSP00000419050.1:p.Ile694=
ENST00000478654.5:c.2082C>A	ENSP00000417062.1:p.Ile694=
ENST00000483967.5:c.2208C>A	ENSP00000419856.1:p.Ile736=
ENST00000492143.5:c.*2240C>A	ENSP00000417377.1:n.*2240C>A
NM_001203247.1:c.2235C>A	NP_001190176.1:p.Ile745=
NM_001203248.1:c.2208C>A	NP_001190177.1:p.Ile736=
NM_001203249.1:c.2082C>A	NP_001190178.1:p.Ile694=
NM_004456.4:c.2250C>A , LRG_531t1:c.2250C>A	NP_004447.2:p.Ile750=
NM_152998.2:c.2118C>A	NP_694543.1:p.Ile706=
XM_005249962.3:c.2259C>A	XP_005250019.1:p.Ile753=
XM_005249963.3:c.2232C>A	XP_005250020.1:p.Ile744=
XM_005249964.3:c.2106C>A	XP_005250021.1:p.Ile702=
XM_011515883.1:c.2274C>A	XP_011514185.1:p.Ile758=
XM_011515884.1:c.2250C>A	XP_011514186.1:p.Ile750=
XM_011515885.1:c.2247C>A	XP_011514187.1:p.Ile749=
XM_011515886.1:c.2226C>A	XP_011514188.1:p.Ile742=
XM_011515887.1:c.2223C>A	XP_011514189.1:p.Ile741=
XM_011515888.1:c.2223C>A	XP_011514190.1:p.Ile741=
XM_011515889.1:c.2184C>A	XP_011514191.1:p.Ile728=
XM_011515890.1:c.2157C>A	XP_011514192.1:p.Ile719=
XM_011515891.1:c.2151C>A	XP_011514193.1:p.Ile717=
XM_011515892.1:c.2148C>A	XP_011514194.1:p.Ile716=
XM_011515893.1:c.2142C>A	XP_011514195.1:p.Ile714=
XM_011515894.1:c.2133C>A	XP_011514196.1:p.Ile711=
XM_011515895.1:c.2130C>A	XP_011514197.1:p.Ile710=
XM_011515896.1:c.2016C>A	XP_011514198.1:p.Ile672=
XM_011515897.1:c.1923C>A	XP_011514199.1:p.Ile641=
XM_011515898.1:c.1923C>A	XP_011514200.1:p.Ile641=
XR_928101.1:n.515+2567G>T
XR_928102.1:n.722+2567G>T
XM_005249962.4:c.2259C>A	XP_005250019.1:p.Ile753=
XM_005249963.4:c.2232C>A	XP_005250020.1:p.Ile744=
XM_005249964.4:c.2106C>A	XP_005250021.1:p.Ile702=
XM_011515883.2:c.2274C>A	XP_011514185.1:p.Ile758=
XM_011515884.2:c.2250C>A	XP_011514186.1:p.Ile750=
XM_011515885.2:c.2247C>A	XP_011514187.1:p.Ile749=
XM_011515886.2:c.2226C>A	XP_011514188.1:p.Ile742=
XM_011515887.3:c.2223C>A	XP_011514189.1:p.Ile741=
XM_011515888.2:c.2223C>A	XP_011514190.1:p.Ile741=
XM_011515889.2:c.2184C>A	XP_011514191.1:p.Ile728=
XM_011515890.2:c.2157C>A	XP_011514192.1:p.Ile719=
XM_011515891.3:c.2151C>A	XP_011514193.1:p.Ile717=
XM_011515892.2:c.2148C>A	XP_011514194.1:p.Ile716=
XM_011515893.2:c.2142C>A	XP_011514195.1:p.Ile714=
XM_011515894.2:c.2133C>A	XP_011514196.1:p.Ile711=
XM_011515895.2:c.2130C>A	XP_011514197.1:p.Ile710=
XM_011515896.2:c.2016C>A	XP_011514198.1:p.Ile672=
XM_011515897.2:c.1923C>A	XP_011514199.1:p.Ile641=
XM_011515898.2:c.1923C>A	XP_011514200.1:p.Ile641=
XM_017011817.2:c.2274C>A	XP_016867306.1:p.Ile758=
XM_017011818.1:c.2211C>A	XP_016867307.1:p.Ile737=
XM_017011819.1:c.2133C>A	XP_016867308.1:p.Ile711=
XM_017011820.2:c.2106C>A	XP_016867309.1:p.Ile702=
XM_017011821.1:c.1908C>A	XP_016867310.1:p.Ile636=
XM_024446680.1:c.2136C>A	XP_024302448.1:p.Ile712=
XR_001744581.1:n.4624C>A
XR_002956413.1:n.5280C>A
XR_002956414.1:n.5740C>A
NM_001203247.2:c.2235C>A	NP_001190176.1:p.Ile745=
NM_001203248.2:c.2208C>A	NP_001190177.1:p.Ile736=
NM_001203249.2:c.2082C>A	NP_001190178.1:p.Ile694=
NM_004456.5:c.2250C>A MANE Select	NP_004447.2:p.Ile750=
NM_152998.3:c.2118C>A	NP_694543.1:p.Ile706=