Canonical Allele Identifier: CA1751424146

Gene: EZH2

Linked Data

• dbSNP Id: rs1790221802

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811651_148811671dup , CM000669.2:g.148811651_148811671dup	GRCh38
NC_000007.13:g.148508743_148508763dup , CM000669.1:g.148508743_148508763dup	GRCh37
NC_000007.12:g.148139676_148139696dup	NCBI36
NG_032043.1:g.77681_77701dup , LRG_531:g.77681_77701dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3803_3823dup
ENST00000682317.1:c.*965_*985dup	ENSP00000508286.1:n.*965_*985dup
ENST00000683292.1:c.*799_*819dup	ENSP00000507503.1:n.*799_*819dup
ENST00000683293.1:n.3622_3642dup
ENST00000683744.1:c.*965_*985dup	ENSP00000506949.1:n.*965_*985dup
ENST00000684300.1:c.*965_*985dup	ENSP00000508407.1:n.*965_*985dup
ENST00000684400.1:n.2794_2814dup
ENST00000684436.1:n.2219_2239dup
ENST00000684510.1:n.2281_2301dup
ENST00000320356.7:c.1903_1923dup MANE Select	ENSP00000320147.2:p.Glu641_Phe642insAspPr...
ENST00000320356.6:c.1903_1923dup	ENSP00000320147.2:p.Glu641_Phe642insAspPr...
ENST00000350995.6:c.1771_1791dup	ENSP00000223193.2:p.Glu597_Phe598insAspPr...
ENST00000460911.5:c.1888_1908dup	ENSP00000419711.1:p.Glu636_Phe637insAspPr...
ENST00000469631.1:n.155_175dup
ENST00000476773.5:c.1735_1755dup	ENSP00000419050.1:p.Glu585_Phe586insAspPr...
ENST00000478654.5:c.1735_1755dup	ENSP00000417062.1:p.Glu585_Phe586insAspPr...
ENST00000483967.5:c.1861_1881dup	ENSP00000419856.1:p.Glu627_Phe628insAspPr...
ENST00000492143.5:c.*1893_*1913dup	ENSP00000417377.1:n.*1893_*1913dup
NM_001203247.1:c.1888_1908dup	NP_001190176.1:p.Glu636_Phe637insAspProVa...
NM_001203248.1:c.1861_1881dup	NP_001190177.1:p.Glu627_Phe628insAspProVa...
NM_001203249.1:c.1735_1755dup	NP_001190178.1:p.Glu585_Phe586insAspProVa...
NM_004456.4:c.1903_1923dup , LRG_531t1:c.1903_1923dup	NP_004447.2:p.Glu641_Phe642insAspProValGl...
NM_152998.2:c.1771_1791dup	NP_694543.1:p.Glu597_Phe598insAspProValGl...
XM_005249962.3:c.1912_1932dup	XP_005250019.1:p.Glu644_Phe645insAspProVa...
XM_005249963.3:c.1885_1905dup	XP_005250020.1:p.Glu635_Phe636insAspProVa...
XM_005249964.3:c.1759_1779dup	XP_005250021.1:p.Glu593_Phe594insAspProVa...
XM_011515883.1:c.1927_1947dup	XP_011514185.1:p.Glu649_Phe650insAspProVa...
XM_011515884.1:c.1903_1923dup	XP_011514186.1:p.Glu641_Phe642insAspProVa...
XM_011515885.1:c.1900_1920dup	XP_011514187.1:p.Glu640_Phe641insAspProVa...
XM_011515886.1:c.1879_1899dup	XP_011514188.1:p.Glu633_Phe634insAspProVa...
XM_011515887.1:c.1876_1896dup	XP_011514189.1:p.Glu632_Phe633insAspProVa...
XM_011515888.1:c.1876_1896dup	XP_011514190.1:p.Glu632_Phe633insAspProVa...
XM_011515889.1:c.1837_1857dup	XP_011514191.1:p.Glu619_Phe620insAspProVa...
XM_011515890.1:c.1810_1830dup	XP_011514192.1:p.Glu610_Phe611insAspProVa...
XM_011515891.1:c.1804_1824dup	XP_011514193.1:p.Glu608_Phe609insAspProVa...
XM_011515892.1:c.1801_1821dup	XP_011514194.1:p.Glu607_Phe608insAspProVa...
XM_011515893.1:c.1795_1815dup	XP_011514195.1:p.Glu605_Phe606insAspProVa...
XM_011515894.1:c.1786_1806dup	XP_011514196.1:p.Glu602_Phe603insAspProVa...
XM_011515895.1:c.1783_1803dup	XP_011514197.1:p.Glu601_Phe602insAspProVa...
XM_011515896.1:c.1669_1689dup	XP_011514198.1:p.Glu563_Phe564insAspProVa...
XM_011515897.1:c.1576_1596dup	XP_011514199.1:p.Glu532_Phe533insAspProVa...
XM_011515898.1:c.1576_1596dup	XP_011514200.1:p.Glu532_Phe533insAspProVa...
XR_928101.1:n.515+6566_515+6586dup
XR_928102.1:n.722+6566_722+6586dup
XM_005249962.4:c.1912_1932dup	XP_005250019.1:p.Glu644_Phe645insAspProVa...
XM_005249963.4:c.1885_1905dup	XP_005250020.1:p.Glu635_Phe636insAspProVa...
XM_005249964.4:c.1759_1779dup	XP_005250021.1:p.Glu593_Phe594insAspProVa...
XM_011515883.2:c.1927_1947dup	XP_011514185.1:p.Glu649_Phe650insAspProVa...
XM_011515884.2:c.1903_1923dup	XP_011514186.1:p.Glu641_Phe642insAspProVa...
XM_011515885.2:c.1900_1920dup	XP_011514187.1:p.Glu640_Phe641insAspProVa...
XM_011515886.2:c.1879_1899dup	XP_011514188.1:p.Glu633_Phe634insAspProVa...
XM_011515887.3:c.1876_1896dup	XP_011514189.1:p.Glu632_Phe633insAspProVa...
XM_011515888.2:c.1876_1896dup	XP_011514190.1:p.Glu632_Phe633insAspProVa...
XM_011515889.2:c.1837_1857dup	XP_011514191.1:p.Glu619_Phe620insAspProVa...
XM_011515890.2:c.1810_1830dup	XP_011514192.1:p.Glu610_Phe611insAspProVa...
XM_011515891.3:c.1804_1824dup	XP_011514193.1:p.Glu608_Phe609insAspProVa...
XM_011515892.2:c.1801_1821dup	XP_011514194.1:p.Glu607_Phe608insAspProVa...
XM_011515893.2:c.1795_1815dup	XP_011514195.1:p.Glu605_Phe606insAspProVa...
XM_011515894.2:c.1786_1806dup	XP_011514196.1:p.Glu602_Phe603insAspProVa...
XM_011515895.2:c.1783_1803dup	XP_011514197.1:p.Glu601_Phe602insAspProVa...
XM_011515896.2:c.1669_1689dup	XP_011514198.1:p.Glu563_Phe564insAspProVa...
XM_011515897.2:c.1576_1596dup	XP_011514199.1:p.Glu532_Phe533insAspProVa...
XM_011515898.2:c.1576_1596dup	XP_011514200.1:p.Glu532_Phe533insAspProVa...
XM_017011817.2:c.1927_1947dup	XP_016867306.1:p.Glu649_Phe650insAspProVa...
XM_017011818.1:c.1864_1884dup	XP_016867307.1:p.Glu628_Phe629insAspProVa...
XM_017011819.1:c.1786_1806dup	XP_016867308.1:p.Glu602_Phe603insAspProVa...
XM_017011820.2:c.1759_1779dup	XP_016867309.1:p.Glu593_Phe594insAspProVa...
XM_017011821.1:c.1561_1581dup	XP_016867310.1:p.Glu527_Phe528insAspProVa...
XM_024446680.1:c.1789_1809dup	XP_024302448.1:p.Glu603_Phe604insAspProVa...
XR_001744581.1:n.4277_4297dup
XR_002956413.1:n.4933_4953dup
XR_002956414.1:n.5393_5413dup
NM_001203247.2:c.1888_1908dup	NP_001190176.1:p.Glu636_Phe637insAspProVa...
NM_001203248.2:c.1861_1881dup	NP_001190177.1:p.Glu627_Phe628insAspProVa...
NM_001203249.2:c.1735_1755dup	NP_001190178.1:p.Glu585_Phe586insAspProVa...
NM_004456.5:c.1903_1923dup MANE Select	NP_004447.2:p.Glu641_Phe642insAspProValGl...
NM_152998.3:c.1771_1791dup	NP_694543.1:p.Glu597_Phe598insAspProValGl...