Canonical Allele Identifier: CA1751422382

Gene: EZH2

Linked Data

• dbSNP Id: rs1802690771

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810358_148810359insGG , CM000669.2:g.148810358_148810359insGG	GRCh38
NC_000007.13:g.148507450_148507451insGG , CM000669.1:g.148507450_148507451insGG	GRCh37
NC_000007.12:g.148138383_148138384insGG	NCBI36
NG_032043.1:g.78992_78993insCC , LRG_531:g.78992_78993insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3904_3905insCC
ENST00000682317.1:c.*1066_*1067insCC	ENSP00000508286.1:n.*1066_*1067insCC
ENST00000683292.1:c.*900_*901insCC	ENSP00000507503.1:n.*900_*901insCC
ENST00000683293.1:n.3723_3724insCC
ENST00000683744.1:c.*1066_*1067insCC	ENSP00000506949.1:n.*1066_*1067insCC
ENST00000684300.1:c.*1066_*1067insCC	ENSP00000508407.1:n.*1066_*1067insCC
ENST00000684400.1:n.2895_2896insCC
ENST00000684436.1:n.2320_2321insCC
ENST00000684510.1:n.2382_2383insCC
ENST00000320356.7:c.2004_2005insCC MANE Select	ENSP00000320147.2:p.Ser669ProfsTer7
ENST00000320356.6:c.2004_2005insCC	ENSP00000320147.2:p.Ser669ProfsTer7
ENST00000350995.6:c.1872_1873insCC	ENSP00000223193.2:p.Ser625ProfsTer7
ENST00000460911.5:c.1989_1990insCC	ENSP00000419711.1:p.Ser664ProfsTer7
ENST00000469631.1:n.256_257insCC
ENST00000476773.5:c.1836_1837insCC	ENSP00000419050.1:p.Ser613ProfsTer7
ENST00000478654.5:c.1836_1837insCC	ENSP00000417062.1:p.Ser613ProfsTer7
ENST00000483967.5:c.1962_1963insCC	ENSP00000419856.1:p.Ser655ProfsTer7
ENST00000492143.5:c.*1994_*1995insCC	ENSP00000417377.1:n.*1994_*1995insCC
NM_001203247.1:c.1989_1990insCC	NP_001190176.1:p.Ser664ProfsTer7
NM_001203248.1:c.1962_1963insCC	NP_001190177.1:p.Ser655ProfsTer7
NM_001203249.1:c.1836_1837insCC	NP_001190178.1:p.Ser613ProfsTer7
NM_004456.4:c.2004_2005insCC , LRG_531t1:c.2004_2005insCC	NP_004447.2:p.Ser669ProfsTer7
NM_152998.2:c.1872_1873insCC	NP_694543.1:p.Ser625ProfsTer7
XM_005249962.3:c.2013_2014insCC	XP_005250019.1:p.Ser672ProfsTer7
XM_005249963.3:c.1986_1987insCC	XP_005250020.1:p.Ser663ProfsTer7
XM_005249964.3:c.1860_1861insCC	XP_005250021.1:p.Ser621ProfsTer7
XM_011515883.1:c.2028_2029insCC	XP_011514185.1:p.Ser677ProfsTer7
XM_011515884.1:c.2004_2005insCC	XP_011514186.1:p.Ser669ProfsTer7
XM_011515885.1:c.2001_2002insCC	XP_011514187.1:p.Ser668ProfsTer7
XM_011515886.1:c.1980_1981insCC	XP_011514188.1:p.Ser661ProfsTer7
XM_011515887.1:c.1977_1978insCC	XP_011514189.1:p.Ser660ProfsTer7
XM_011515888.1:c.1977_1978insCC	XP_011514190.1:p.Ser660ProfsTer7
XM_011515889.1:c.1938_1939insCC	XP_011514191.1:p.Ser647ProfsTer7
XM_011515890.1:c.1911_1912insCC	XP_011514192.1:p.Ser638ProfsTer7
XM_011515891.1:c.1905_1906insCC	XP_011514193.1:p.Ser636ProfsTer7
XM_011515892.1:c.1902_1903insCC	XP_011514194.1:p.Ser635ProfsTer7
XM_011515893.1:c.1896_1897insCC	XP_011514195.1:p.Ser633ProfsTer7
XM_011515894.1:c.1887_1888insCC	XP_011514196.1:p.Ser630ProfsTer7
XM_011515895.1:c.1884_1885insCC	XP_011514197.1:p.Ser629ProfsTer7
XM_011515896.1:c.1770_1771insCC	XP_011514198.1:p.Ser591ProfsTer7
XM_011515897.1:c.1677_1678insCC	XP_011514199.1:p.Ser560ProfsTer7
XM_011515898.1:c.1677_1678insCC	XP_011514200.1:p.Ser560ProfsTer7
XR_928101.1:n.515+5273_515+5274insGG
XR_928102.1:n.722+5273_722+5274insGG
XM_005249962.4:c.2013_2014insCC	XP_005250019.1:p.Ser672ProfsTer7
XM_005249963.4:c.1986_1987insCC	XP_005250020.1:p.Ser663ProfsTer7
XM_005249964.4:c.1860_1861insCC	XP_005250021.1:p.Ser621ProfsTer7
XM_011515883.2:c.2028_2029insCC	XP_011514185.1:p.Ser677ProfsTer7
XM_011515884.2:c.2004_2005insCC	XP_011514186.1:p.Ser669ProfsTer7
XM_011515885.2:c.2001_2002insCC	XP_011514187.1:p.Ser668ProfsTer7
XM_011515886.2:c.1980_1981insCC	XP_011514188.1:p.Ser661ProfsTer7
XM_011515887.3:c.1977_1978insCC	XP_011514189.1:p.Ser660ProfsTer7
XM_011515888.2:c.1977_1978insCC	XP_011514190.1:p.Ser660ProfsTer7
XM_011515889.2:c.1938_1939insCC	XP_011514191.1:p.Ser647ProfsTer7
XM_011515890.2:c.1911_1912insCC	XP_011514192.1:p.Ser638ProfsTer7
XM_011515891.3:c.1905_1906insCC	XP_011514193.1:p.Ser636ProfsTer7
XM_011515892.2:c.1902_1903insCC	XP_011514194.1:p.Ser635ProfsTer7
XM_011515893.2:c.1896_1897insCC	XP_011514195.1:p.Ser633ProfsTer7
XM_011515894.2:c.1887_1888insCC	XP_011514196.1:p.Ser630ProfsTer7
XM_011515895.2:c.1884_1885insCC	XP_011514197.1:p.Ser629ProfsTer7
XM_011515896.2:c.1770_1771insCC	XP_011514198.1:p.Ser591ProfsTer7
XM_011515897.2:c.1677_1678insCC	XP_011514199.1:p.Ser560ProfsTer7
XM_011515898.2:c.1677_1678insCC	XP_011514200.1:p.Ser560ProfsTer7
XM_017011817.2:c.2028_2029insCC	XP_016867306.1:p.Ser677ProfsTer7
XM_017011818.1:c.1965_1966insCC	XP_016867307.1:p.Ser656ProfsTer7
XM_017011819.1:c.1887_1888insCC	XP_016867308.1:p.Ser630ProfsTer7
XM_017011820.2:c.1860_1861insCC	XP_016867309.1:p.Ser621ProfsTer7
XM_017011821.1:c.1662_1663insCC	XP_016867310.1:p.Ser555ProfsTer7
XM_024446680.1:c.1890_1891insCC	XP_024302448.1:p.Ser631ProfsTer7
XR_001744581.1:n.4378_4379insCC
XR_002956413.1:n.5034_5035insCC
XR_002956414.1:n.5494_5495insCC
NM_001203247.2:c.1989_1990insCC	NP_001190176.1:p.Ser664ProfsTer7
NM_001203248.2:c.1962_1963insCC	NP_001190177.1:p.Ser655ProfsTer7
NM_001203249.2:c.1836_1837insCC	NP_001190178.1:p.Ser613ProfsTer7
NM_004456.5:c.2004_2005insCC MANE Select	NP_004447.2:p.Ser669ProfsTer7
NM_152998.3:c.1872_1873insCC	NP_694543.1:p.Ser625ProfsTer7