Canonical Allele Identifier: CA458345808

Gene: EZH2

Linked Data

• dbSNP Id: rs2129469005
• COSMIC: COSM6213108 ; COSM6213109
• MyVariant Identifiers: chr7:g.148508729T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811637T>C , CM000669.2:g.148811637T>C	GRCh38
NC_000007.13:g.148508729T>C , CM000669.1:g.148508729T>C	GRCh37
NC_000007.12:g.148139662T>C	NCBI36
NG_032043.1:g.77713A>G , LRG_531:g.77713A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3835A>G
ENST00000682317.1:c.*997A>G	ENSP00000508286.1:n.*997A>G
ENST00000683292.1:c.*831A>G	ENSP00000507503.1:n.*831A>G
ENST00000683293.1:n.3654A>G
ENST00000683744.1:c.*997A>G	ENSP00000506949.1:n.*997A>G
ENST00000684300.1:c.*997A>G	ENSP00000508407.1:n.*997A>G
ENST00000684400.1:n.2826A>G
ENST00000684436.1:n.2251A>G
ENST00000684510.1:n.2313A>G
ENST00000320356.7:c.1935A>G MANE Select	ENSP00000320147.2:p.Glu645=
ENST00000320356.6:c.1935A>G	ENSP00000320147.2:p.Glu645=
ENST00000350995.6:c.1803A>G	ENSP00000223193.2:p.Glu601=
ENST00000460911.5:c.1920A>G	ENSP00000419711.1:p.Glu640=
ENST00000469631.1:n.187A>G
ENST00000476773.5:c.1767A>G	ENSP00000419050.1:p.Glu589=
ENST00000478654.5:c.1767A>G	ENSP00000417062.1:p.Glu589=
ENST00000483967.5:c.1893A>G	ENSP00000419856.1:p.Glu631=
ENST00000492143.5:c.*1925A>G	ENSP00000417377.1:n.*1925A>G
NM_001203247.1:c.1920A>G	NP_001190176.1:p.Glu640=
NM_001203248.1:c.1893A>G	NP_001190177.1:p.Glu631=
NM_001203249.1:c.1767A>G	NP_001190178.1:p.Glu589=
NM_004456.4:c.1935A>G , LRG_531t1:c.1935A>G	NP_004447.2:p.Glu645=
NM_152998.2:c.1803A>G	NP_694543.1:p.Glu601=
XM_005249962.3:c.1944A>G	XP_005250019.1:p.Glu648=
XM_005249963.3:c.1917A>G	XP_005250020.1:p.Glu639=
XM_005249964.3:c.1791A>G	XP_005250021.1:p.Glu597=
XM_011515883.1:c.1959A>G	XP_011514185.1:p.Glu653=
XM_011515884.1:c.1935A>G	XP_011514186.1:p.Glu645=
XM_011515885.1:c.1932A>G	XP_011514187.1:p.Glu644=
XM_011515886.1:c.1911A>G	XP_011514188.1:p.Glu637=
XM_011515887.1:c.1908A>G	XP_011514189.1:p.Glu636=
XM_011515888.1:c.1908A>G	XP_011514190.1:p.Glu636=
XM_011515889.1:c.1869A>G	XP_011514191.1:p.Glu623=
XM_011515890.1:c.1842A>G	XP_011514192.1:p.Glu614=
XM_011515891.1:c.1836A>G	XP_011514193.1:p.Glu612=
XM_011515892.1:c.1833A>G	XP_011514194.1:p.Glu611=
XM_011515893.1:c.1827A>G	XP_011514195.1:p.Glu609=
XM_011515894.1:c.1818A>G	XP_011514196.1:p.Glu606=
XM_011515895.1:c.1815A>G	XP_011514197.1:p.Glu605=
XM_011515896.1:c.1701A>G	XP_011514198.1:p.Glu567=
XM_011515897.1:c.1608A>G	XP_011514199.1:p.Glu536=
XM_011515898.1:c.1608A>G	XP_011514200.1:p.Glu536=
XR_928101.1:n.515+6552T>C
XR_928102.1:n.722+6552T>C
XM_005249962.4:c.1944A>G	XP_005250019.1:p.Glu648=
XM_005249963.4:c.1917A>G	XP_005250020.1:p.Glu639=
XM_005249964.4:c.1791A>G	XP_005250021.1:p.Glu597=
XM_011515883.2:c.1959A>G	XP_011514185.1:p.Glu653=
XM_011515884.2:c.1935A>G	XP_011514186.1:p.Glu645=
XM_011515885.2:c.1932A>G	XP_011514187.1:p.Glu644=
XM_011515886.2:c.1911A>G	XP_011514188.1:p.Glu637=
XM_011515887.3:c.1908A>G	XP_011514189.1:p.Glu636=
XM_011515888.2:c.1908A>G	XP_011514190.1:p.Glu636=
XM_011515889.2:c.1869A>G	XP_011514191.1:p.Glu623=
XM_011515890.2:c.1842A>G	XP_011514192.1:p.Glu614=
XM_011515891.3:c.1836A>G	XP_011514193.1:p.Glu612=
XM_011515892.2:c.1833A>G	XP_011514194.1:p.Glu611=
XM_011515893.2:c.1827A>G	XP_011514195.1:p.Glu609=
XM_011515894.2:c.1818A>G	XP_011514196.1:p.Glu606=
XM_011515895.2:c.1815A>G	XP_011514197.1:p.Glu605=
XM_011515896.2:c.1701A>G	XP_011514198.1:p.Glu567=
XM_011515897.2:c.1608A>G	XP_011514199.1:p.Glu536=
XM_011515898.2:c.1608A>G	XP_011514200.1:p.Glu536=
XM_017011817.2:c.1959A>G	XP_016867306.1:p.Glu653=
XM_017011818.1:c.1896A>G	XP_016867307.1:p.Glu632=
XM_017011819.1:c.1818A>G	XP_016867308.1:p.Glu606=
XM_017011820.2:c.1791A>G	XP_016867309.1:p.Glu597=
XM_017011821.1:c.1593A>G	XP_016867310.1:p.Glu531=
XM_024446680.1:c.1821A>G	XP_024302448.1:p.Glu607=
XR_001744581.1:n.4309A>G
XR_002956413.1:n.4965A>G
XR_002956414.1:n.5425A>G
NM_001203247.2:c.1920A>G	NP_001190176.1:p.Glu640=
NM_001203248.2:c.1893A>G	NP_001190177.1:p.Glu631=
NM_001203249.2:c.1767A>G	NP_001190178.1:p.Glu589=
NM_004456.5:c.1935A>G MANE Select	NP_004447.2:p.Glu645=
NM_152998.3:c.1803A>G	NP_694543.1:p.Glu601=