Canonical Allele Identifier: CA458345631

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807688-G-T
• MyVariant Identifiers: chr7:g.148504780G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807688G>T , CM000669.2:g.148807688G>T	GRCh38
NC_000007.13:g.148504780G>T , CM000669.1:g.148504780G>T	GRCh37
NC_000007.12:g.148135713G>T	NCBI36
NG_032043.1:g.81662C>A , LRG_531:g.81662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4114C>A
ENST00000682317.1:c.*1276C>A	ENSP00000508286.1:n.*1276C>A
ENST00000683292.1:c.*1110C>A	ENSP00000507503.1:n.*1110C>A
ENST00000683293.1:n.3933C>A
ENST00000683744.1:c.*1276C>A	ENSP00000506949.1:n.*1276C>A
ENST00000684300.1:c.*1276C>A	ENSP00000508407.1:n.*1276C>A
ENST00000684400.1:n.4201C>A
ENST00000684436.1:n.2530C>A
ENST00000684510.1:n.2592C>A
ENST00000320356.7:c.2214C>A MANE Select	ENSP00000320147.2:p.Ala738=
ENST00000320356.6:c.2214C>A	ENSP00000320147.2:p.Ala738=
ENST00000350995.6:c.2082C>A	ENSP00000223193.2:p.Ala694=
ENST00000460911.5:c.2199C>A	ENSP00000419711.1:p.Ala733=
ENST00000476773.5:c.2046C>A	ENSP00000419050.1:p.Ala682=
ENST00000478654.5:c.2046C>A	ENSP00000417062.1:p.Ala682=
ENST00000483967.5:c.2172C>A	ENSP00000419856.1:p.Ala724=
ENST00000492143.5:c.*2204C>A	ENSP00000417377.1:n.*2204C>A
NM_001203247.1:c.2199C>A	NP_001190176.1:p.Ala733=
NM_001203248.1:c.2172C>A	NP_001190177.1:p.Ala724=
NM_001203249.1:c.2046C>A	NP_001190178.1:p.Ala682=
NM_004456.4:c.2214C>A , LRG_531t1:c.2214C>A	NP_004447.2:p.Ala738=
NM_152998.2:c.2082C>A	NP_694543.1:p.Ala694=
XM_005249962.3:c.2223C>A	XP_005250019.1:p.Ala741=
XM_005249963.3:c.2196C>A	XP_005250020.1:p.Ala732=
XM_005249964.3:c.2070C>A	XP_005250021.1:p.Ala690=
XM_011515883.1:c.2238C>A	XP_011514185.1:p.Ala746=
XM_011515884.1:c.2214C>A	XP_011514186.1:p.Ala738=
XM_011515885.1:c.2211C>A	XP_011514187.1:p.Ala737=
XM_011515886.1:c.2190C>A	XP_011514188.1:p.Ala730=
XM_011515887.1:c.2187C>A	XP_011514189.1:p.Ala729=
XM_011515888.1:c.2187C>A	XP_011514190.1:p.Ala729=
XM_011515889.1:c.2148C>A	XP_011514191.1:p.Ala716=
XM_011515890.1:c.2121C>A	XP_011514192.1:p.Ala707=
XM_011515891.1:c.2115C>A	XP_011514193.1:p.Ala705=
XM_011515892.1:c.2112C>A	XP_011514194.1:p.Ala704=
XM_011515893.1:c.2106C>A	XP_011514195.1:p.Ala702=
XM_011515894.1:c.2097C>A	XP_011514196.1:p.Ala699=
XM_011515895.1:c.2094C>A	XP_011514197.1:p.Ala698=
XM_011515896.1:c.1980C>A	XP_011514198.1:p.Ala660=
XM_011515897.1:c.1887C>A	XP_011514199.1:p.Ala629=
XM_011515898.1:c.1887C>A	XP_011514200.1:p.Ala629=
XR_928101.1:n.515+2603G>T
XR_928102.1:n.722+2603G>T
XM_005249962.4:c.2223C>A	XP_005250019.1:p.Ala741=
XM_005249963.4:c.2196C>A	XP_005250020.1:p.Ala732=
XM_005249964.4:c.2070C>A	XP_005250021.1:p.Ala690=
XM_011515883.2:c.2238C>A	XP_011514185.1:p.Ala746=
XM_011515884.2:c.2214C>A	XP_011514186.1:p.Ala738=
XM_011515885.2:c.2211C>A	XP_011514187.1:p.Ala737=
XM_011515886.2:c.2190C>A	XP_011514188.1:p.Ala730=
XM_011515887.3:c.2187C>A	XP_011514189.1:p.Ala729=
XM_011515888.2:c.2187C>A	XP_011514190.1:p.Ala729=
XM_011515889.2:c.2148C>A	XP_011514191.1:p.Ala716=
XM_011515890.2:c.2121C>A	XP_011514192.1:p.Ala707=
XM_011515891.3:c.2115C>A	XP_011514193.1:p.Ala705=
XM_011515892.2:c.2112C>A	XP_011514194.1:p.Ala704=
XM_011515893.2:c.2106C>A	XP_011514195.1:p.Ala702=
XM_011515894.2:c.2097C>A	XP_011514196.1:p.Ala699=
XM_011515895.2:c.2094C>A	XP_011514197.1:p.Ala698=
XM_011515896.2:c.1980C>A	XP_011514198.1:p.Ala660=
XM_011515897.2:c.1887C>A	XP_011514199.1:p.Ala629=
XM_011515898.2:c.1887C>A	XP_011514200.1:p.Ala629=
XM_017011817.2:c.2238C>A	XP_016867306.1:p.Ala746=
XM_017011818.1:c.2175C>A	XP_016867307.1:p.Ala725=
XM_017011819.1:c.2097C>A	XP_016867308.1:p.Ala699=
XM_017011820.2:c.2070C>A	XP_016867309.1:p.Ala690=
XM_017011821.1:c.1872C>A	XP_016867310.1:p.Ala624=
XM_024446680.1:c.2100C>A	XP_024302448.1:p.Ala700=
XR_001744581.1:n.4588C>A
XR_002956413.1:n.5244C>A
XR_002956414.1:n.5704C>A
NM_001203247.2:c.2199C>A	NP_001190176.1:p.Ala733=
NM_001203248.2:c.2172C>A	NP_001190177.1:p.Ala724=
NM_001203249.2:c.2046C>A	NP_001190178.1:p.Ala682=
NM_004456.5:c.2214C>A MANE Select	NP_004447.2:p.Ala738=
NM_152998.3:c.2082C>A	NP_694543.1:p.Ala694=