Canonical Allele Identifier: CA369713042

Gene: EZH2

Linked Data

• dbSNP Id: rs2129469007
• MyVariant Identifiers: chr7:g.148508731C>A (hg19) ; chr7:g.148811639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811639C>A , CM000669.2:g.148811639C>A	GRCh38
NC_000007.13:g.148508731C>A , CM000669.1:g.148508731C>A	GRCh37
NC_000007.12:g.148139664C>A	NCBI36
NG_032043.1:g.77711G>T , LRG_531:g.77711G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3833G>T
ENST00000682317.1:c.*995G>T	ENSP00000508286.1:n.*995G>T
ENST00000683292.1:c.*829G>T	ENSP00000507503.1:n.*829G>T
ENST00000683293.1:n.3652G>T
ENST00000683744.1:c.*995G>T	ENSP00000506949.1:n.*995G>T
ENST00000684300.1:c.*995G>T	ENSP00000508407.1:n.*995G>T
ENST00000684400.1:n.2824G>T
ENST00000684436.1:n.2249G>T
ENST00000684510.1:n.2311G>T
ENST00000320356.7:c.1933G>T MANE Select	ENSP00000320147.2:p.Glu645Ter
ENST00000320356.6:c.1933G>T	ENSP00000320147.2:p.Glu645Ter
ENST00000350995.6:c.1801G>T	ENSP00000223193.2:p.Glu601Ter
ENST00000460911.5:c.1918G>T	ENSP00000419711.1:p.Glu640Ter
ENST00000469631.1:n.185G>T
ENST00000476773.5:c.1765G>T	ENSP00000419050.1:p.Glu589Ter
ENST00000478654.5:c.1765G>T	ENSP00000417062.1:p.Glu589Ter
ENST00000483967.5:c.1891G>T	ENSP00000419856.1:p.Glu631Ter
ENST00000492143.5:c.*1923G>T	ENSP00000417377.1:n.*1923G>T
NM_001203247.1:c.1918G>T	NP_001190176.1:p.Glu640Ter
NM_001203248.1:c.1891G>T	NP_001190177.1:p.Glu631Ter
NM_001203249.1:c.1765G>T	NP_001190178.1:p.Glu589Ter
NM_004456.4:c.1933G>T , LRG_531t1:c.1933G>T	NP_004447.2:p.Glu645Ter
NM_152998.2:c.1801G>T	NP_694543.1:p.Glu601Ter
XM_005249962.3:c.1942G>T	XP_005250019.1:p.Glu648Ter
XM_005249963.3:c.1915G>T	XP_005250020.1:p.Glu639Ter
XM_005249964.3:c.1789G>T	XP_005250021.1:p.Glu597Ter
XM_011515883.1:c.1957G>T	XP_011514185.1:p.Glu653Ter
XM_011515884.1:c.1933G>T	XP_011514186.1:p.Glu645Ter
XM_011515885.1:c.1930G>T	XP_011514187.1:p.Glu644Ter
XM_011515886.1:c.1909G>T	XP_011514188.1:p.Glu637Ter
XM_011515887.1:c.1906G>T	XP_011514189.1:p.Glu636Ter
XM_011515888.1:c.1906G>T	XP_011514190.1:p.Glu636Ter
XM_011515889.1:c.1867G>T	XP_011514191.1:p.Glu623Ter
XM_011515890.1:c.1840G>T	XP_011514192.1:p.Glu614Ter
XM_011515891.1:c.1834G>T	XP_011514193.1:p.Glu612Ter
XM_011515892.1:c.1831G>T	XP_011514194.1:p.Glu611Ter
XM_011515893.1:c.1825G>T	XP_011514195.1:p.Glu609Ter
XM_011515894.1:c.1816G>T	XP_011514196.1:p.Glu606Ter
XM_011515895.1:c.1813G>T	XP_011514197.1:p.Glu605Ter
XM_011515896.1:c.1699G>T	XP_011514198.1:p.Glu567Ter
XM_011515897.1:c.1606G>T	XP_011514199.1:p.Glu536Ter
XM_011515898.1:c.1606G>T	XP_011514200.1:p.Glu536Ter
XR_928101.1:n.515+6554C>A
XR_928102.1:n.722+6554C>A
XM_005249962.4:c.1942G>T	XP_005250019.1:p.Glu648Ter
XM_005249963.4:c.1915G>T	XP_005250020.1:p.Glu639Ter
XM_005249964.4:c.1789G>T	XP_005250021.1:p.Glu597Ter
XM_011515883.2:c.1957G>T	XP_011514185.1:p.Glu653Ter
XM_011515884.2:c.1933G>T	XP_011514186.1:p.Glu645Ter
XM_011515885.2:c.1930G>T	XP_011514187.1:p.Glu644Ter
XM_011515886.2:c.1909G>T	XP_011514188.1:p.Glu637Ter
XM_011515887.3:c.1906G>T	XP_011514189.1:p.Glu636Ter
XM_011515888.2:c.1906G>T	XP_011514190.1:p.Glu636Ter
XM_011515889.2:c.1867G>T	XP_011514191.1:p.Glu623Ter
XM_011515890.2:c.1840G>T	XP_011514192.1:p.Glu614Ter
XM_011515891.3:c.1834G>T	XP_011514193.1:p.Glu612Ter
XM_011515892.2:c.1831G>T	XP_011514194.1:p.Glu611Ter
XM_011515893.2:c.1825G>T	XP_011514195.1:p.Glu609Ter
XM_011515894.2:c.1816G>T	XP_011514196.1:p.Glu606Ter
XM_011515895.2:c.1813G>T	XP_011514197.1:p.Glu605Ter
XM_011515896.2:c.1699G>T	XP_011514198.1:p.Glu567Ter
XM_011515897.2:c.1606G>T	XP_011514199.1:p.Glu536Ter
XM_011515898.2:c.1606G>T	XP_011514200.1:p.Glu536Ter
XM_017011817.2:c.1957G>T	XP_016867306.1:p.Glu653Ter
XM_017011818.1:c.1894G>T	XP_016867307.1:p.Glu632Ter
XM_017011819.1:c.1816G>T	XP_016867308.1:p.Glu606Ter
XM_017011820.2:c.1789G>T	XP_016867309.1:p.Glu597Ter
XM_017011821.1:c.1591G>T	XP_016867310.1:p.Glu531Ter
XM_024446680.1:c.1819G>T	XP_024302448.1:p.Glu607Ter
XR_001744581.1:n.4307G>T
XR_002956413.1:n.4963G>T
XR_002956414.1:n.5423G>T
NM_001203247.2:c.1918G>T	NP_001190176.1:p.Glu640Ter
NM_001203248.2:c.1891G>T	NP_001190177.1:p.Glu631Ter
NM_001203249.2:c.1765G>T	NP_001190178.1:p.Glu589Ter
NM_004456.5:c.1933G>T MANE Select	NP_004447.2:p.Glu645Ter
NM_152998.3:c.1801G>T	NP_694543.1:p.Glu601Ter