Canonical Allele Identifier: CA458345815

Gene: EZH2

Linked Data

• gnomAD v4: 7-148811649-T-C
• MyVariant Identifiers: chr7:g.148508741T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811649T>C , CM000669.2:g.148811649T>C	GRCh38
NC_000007.13:g.148508741T>C , CM000669.1:g.148508741T>C	GRCh37
NC_000007.12:g.148139674T>C	NCBI36
NG_032043.1:g.77701A>G , LRG_531:g.77701A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3823A>G
ENST00000682317.1:c.*985A>G	ENSP00000508286.1:n.*985A>G
ENST00000683292.1:c.*819A>G	ENSP00000507503.1:n.*819A>G
ENST00000683293.1:n.3642A>G
ENST00000683744.1:c.*985A>G	ENSP00000506949.1:n.*985A>G
ENST00000684300.1:c.*985A>G	ENSP00000508407.1:n.*985A>G
ENST00000684400.1:n.2814A>G
ENST00000684436.1:n.2239A>G
ENST00000684510.1:n.2301A>G
ENST00000320356.7:c.1923A>G MANE Select	ENSP00000320147.2:p.Glu641=
ENST00000320356.6:c.1923A>G	ENSP00000320147.2:p.Glu641=
ENST00000350995.6:c.1791A>G	ENSP00000223193.2:p.Glu597=
ENST00000460911.5:c.1908A>G	ENSP00000419711.1:p.Glu636=
ENST00000469631.1:n.175A>G
ENST00000476773.5:c.1755A>G	ENSP00000419050.1:p.Glu585=
ENST00000478654.5:c.1755A>G	ENSP00000417062.1:p.Glu585=
ENST00000483967.5:c.1881A>G	ENSP00000419856.1:p.Glu627=
ENST00000492143.5:c.*1913A>G	ENSP00000417377.1:n.*1913A>G
NM_001203247.1:c.1908A>G	NP_001190176.1:p.Glu636=
NM_001203248.1:c.1881A>G	NP_001190177.1:p.Glu627=
NM_001203249.1:c.1755A>G	NP_001190178.1:p.Glu585=
NM_004456.4:c.1923A>G , LRG_531t1:c.1923A>G	NP_004447.2:p.Glu641=
NM_152998.2:c.1791A>G	NP_694543.1:p.Glu597=
XM_005249962.3:c.1932A>G	XP_005250019.1:p.Glu644=
XM_005249963.3:c.1905A>G	XP_005250020.1:p.Glu635=
XM_005249964.3:c.1779A>G	XP_005250021.1:p.Glu593=
XM_011515883.1:c.1947A>G	XP_011514185.1:p.Glu649=
XM_011515884.1:c.1923A>G	XP_011514186.1:p.Glu641=
XM_011515885.1:c.1920A>G	XP_011514187.1:p.Glu640=
XM_011515886.1:c.1899A>G	XP_011514188.1:p.Glu633=
XM_011515887.1:c.1896A>G	XP_011514189.1:p.Glu632=
XM_011515888.1:c.1896A>G	XP_011514190.1:p.Glu632=
XM_011515889.1:c.1857A>G	XP_011514191.1:p.Glu619=
XM_011515890.1:c.1830A>G	XP_011514192.1:p.Glu610=
XM_011515891.1:c.1824A>G	XP_011514193.1:p.Glu608=
XM_011515892.1:c.1821A>G	XP_011514194.1:p.Glu607=
XM_011515893.1:c.1815A>G	XP_011514195.1:p.Glu605=
XM_011515894.1:c.1806A>G	XP_011514196.1:p.Glu602=
XM_011515895.1:c.1803A>G	XP_011514197.1:p.Glu601=
XM_011515896.1:c.1689A>G	XP_011514198.1:p.Glu563=
XM_011515897.1:c.1596A>G	XP_011514199.1:p.Glu532=
XM_011515898.1:c.1596A>G	XP_011514200.1:p.Glu532=
XR_928101.1:n.515+6564T>C
XR_928102.1:n.722+6564T>C
XM_005249962.4:c.1932A>G	XP_005250019.1:p.Glu644=
XM_005249963.4:c.1905A>G	XP_005250020.1:p.Glu635=
XM_005249964.4:c.1779A>G	XP_005250021.1:p.Glu593=
XM_011515883.2:c.1947A>G	XP_011514185.1:p.Glu649=
XM_011515884.2:c.1923A>G	XP_011514186.1:p.Glu641=
XM_011515885.2:c.1920A>G	XP_011514187.1:p.Glu640=
XM_011515886.2:c.1899A>G	XP_011514188.1:p.Glu633=
XM_011515887.3:c.1896A>G	XP_011514189.1:p.Glu632=
XM_011515888.2:c.1896A>G	XP_011514190.1:p.Glu632=
XM_011515889.2:c.1857A>G	XP_011514191.1:p.Glu619=
XM_011515890.2:c.1830A>G	XP_011514192.1:p.Glu610=
XM_011515891.3:c.1824A>G	XP_011514193.1:p.Glu608=
XM_011515892.2:c.1821A>G	XP_011514194.1:p.Glu607=
XM_011515893.2:c.1815A>G	XP_011514195.1:p.Glu605=
XM_011515894.2:c.1806A>G	XP_011514196.1:p.Glu602=
XM_011515895.2:c.1803A>G	XP_011514197.1:p.Glu601=
XM_011515896.2:c.1689A>G	XP_011514198.1:p.Glu563=
XM_011515897.2:c.1596A>G	XP_011514199.1:p.Glu532=
XM_011515898.2:c.1596A>G	XP_011514200.1:p.Glu532=
XM_017011817.2:c.1947A>G	XP_016867306.1:p.Glu649=
XM_017011818.1:c.1884A>G	XP_016867307.1:p.Glu628=
XM_017011819.1:c.1806A>G	XP_016867308.1:p.Glu602=
XM_017011820.2:c.1779A>G	XP_016867309.1:p.Glu593=
XM_017011821.1:c.1581A>G	XP_016867310.1:p.Glu527=
XM_024446680.1:c.1809A>G	XP_024302448.1:p.Glu603=
XR_001744581.1:n.4297A>G
XR_002956413.1:n.4953A>G
XR_002956414.1:n.5413A>G
NM_001203247.2:c.1908A>G	NP_001190176.1:p.Glu636=
NM_001203248.2:c.1881A>G	NP_001190177.1:p.Glu627=
NM_001203249.2:c.1755A>G	NP_001190178.1:p.Glu585=
NM_004456.5:c.1923A>G MANE Select	NP_004447.2:p.Glu641=
NM_152998.3:c.1791A>G	NP_694543.1:p.Glu597=