Canonical Allele Identifier: CA891842040
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807701_148807702insGGGCCTGGC , CM000669.2:g.148807701_148807702insGGGCCTGGC GRCh38
NC_000007.13:g.148504793_148504794insGGGCCTGGC , CM000669.1:g.148504793_148504794insGGGCCTGGC GRCh37
NC_000007.12:g.148135726_148135727insGGGCCTGGC NCBI36
NG_032043.1:g.81655_81656insCCGCCAGGC , LRG_531:g.81655_81656insCCGCCAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4107_4108insCCGCCAGGC
ENST00000682317.1:c.*1269_*1270insCCGCCAGGC ENSP00000508286.1:n.*1269_*1270insCCGCCAGGC
ENST00000683292.1:c.*1103_*1104insCCGCCAGGC ENSP00000507503.1:n.*1103_*1104insCCGCCAGGC
ENST00000683293.1:n.3926_3927insCCGCCAGGC
ENST00000683744.1:c.*1269_*1270insCCGCCAGGC ENSP00000506949.1:n.*1269_*1270insCCGCCAGGC
ENST00000684300.1:c.*1269_*1270insCCGCCAGGC ENSP00000508407.1:n.*1269_*1270insCCGCCAGGC
ENST00000684400.1:n.4194_4195insCCGCCAGGC
ENST00000684436.1:n.2523_2524insCCGCCAGGC
ENST00000684510.1:n.2585_2586insCCGCCAGGC
ENST00000320356.7:c.2207_2208insCCGCCAGGC MANE Select ENSP00000320147.2:p.Ala736_Asp737insArgGlnAla
ENST00000320356.6:c.2207_2208insCCGCCAGGC ENSP00000320147.2:p.Ala736_Asp737insArgGlnAla
ENST00000350995.6:c.2075_2076insCCGCCAGGC ENSP00000223193.2:p.Ala692_Asp693insArgGlnAla
ENST00000460911.5:c.2192_2193insCCGCCAGGC ENSP00000419711.1:p.Ala731_Asp732insArgGlnAla
ENST00000476773.5:c.2039_2040insCCGCCAGGC ENSP00000419050.1:p.Ala680_Asp681insArgGlnAla
ENST00000478654.5:c.2039_2040insCCGCCAGGC ENSP00000417062.1:p.Ala680_Asp681insArgGlnAla
ENST00000483967.5:c.2165_2166insCCGCCAGGC ENSP00000419856.1:p.Ala722_Asp723insArgGlnAla
ENST00000492143.5:c.*2197_*2198insCCGCCAGGC ENSP00000417377.1:n.*2197_*2198insCCGCCAGGC
NM_001203247.1:c.2192_2193insCCGCCAGGC NP_001190176.1:p.Ala731_Asp732insArgGlnAla
NM_001203248.1:c.2165_2166insCCGCCAGGC NP_001190177.1:p.Ala722_Asp723insArgGlnAla
NM_001203249.1:c.2039_2040insCCGCCAGGC NP_001190178.1:p.Ala680_Asp681insArgGlnAla
NM_004456.4:c.2207_2208insCCGCCAGGC , LRG_531t1:c.2207_2208insCCGCCAGGC NP_004447.2:p.Ala736_Asp737insArgGlnAla
NM_152998.2:c.2075_2076insCCGCCAGGC NP_694543.1:p.Ala692_Asp693insArgGlnAla
XM_005249962.3:c.2216_2217insCCGCCAGGC XP_005250019.1:p.Ala739_Asp740insArgGlnAla
XM_005249963.3:c.2189_2190insCCGCCAGGC XP_005250020.1:p.Ala730_Asp731insArgGlnAla
XM_005249964.3:c.2063_2064insCCGCCAGGC XP_005250021.1:p.Ala688_Asp689insArgGlnAla
XM_011515883.1:c.2231_2232insCCGCCAGGC XP_011514185.1:p.Ala744_Asp745insArgGlnAla
XM_011515884.1:c.2207_2208insCCGCCAGGC XP_011514186.1:p.Ala736_Asp737insArgGlnAla
XM_011515885.1:c.2204_2205insCCGCCAGGC XP_011514187.1:p.Ala735_Asp736insArgGlnAla
XM_011515886.1:c.2183_2184insCCGCCAGGC XP_011514188.1:p.Ala728_Asp729insArgGlnAla
XM_011515887.1:c.2180_2181insCCGCCAGGC XP_011514189.1:p.Ala727_Asp728insArgGlnAla
XM_011515888.1:c.2180_2181insCCGCCAGGC XP_011514190.1:p.Ala727_Asp728insArgGlnAla
XM_011515889.1:c.2141_2142insCCGCCAGGC XP_011514191.1:p.Ala714_Asp715insArgGlnAla
XM_011515890.1:c.2114_2115insCCGCCAGGC XP_011514192.1:p.Ala705_Asp706insArgGlnAla
XM_011515891.1:c.2108_2109insCCGCCAGGC XP_011514193.1:p.Ala703_Asp704insArgGlnAla
XM_011515892.1:c.2105_2106insCCGCCAGGC XP_011514194.1:p.Ala702_Asp703insArgGlnAla
XM_011515893.1:c.2099_2100insCCGCCAGGC XP_011514195.1:p.Ala700_Asp701insArgGlnAla
XM_011515894.1:c.2090_2091insCCGCCAGGC XP_011514196.1:p.Ala697_Asp698insArgGlnAla
XM_011515895.1:c.2087_2088insCCGCCAGGC XP_011514197.1:p.Ala696_Asp697insArgGlnAla
XM_011515896.1:c.1973_1974insCCGCCAGGC XP_011514198.1:p.Ala658_Asp659insArgGlnAla
XM_011515897.1:c.1880_1881insCCGCCAGGC XP_011514199.1:p.Ala627_Asp628insArgGlnAla
XM_011515898.1:c.1880_1881insCCGCCAGGC XP_011514200.1:p.Ala627_Asp628insArgGlnAla
XR_928101.1:n.515+2616_515+2617insGGGCCTGGC
XR_928102.1:n.722+2616_722+2617insGGGCCTGGC
XM_005249962.4:c.2216_2217insCCGCCAGGC XP_005250019.1:p.Ala739_Asp740insArgGlnAla
XM_005249963.4:c.2189_2190insCCGCCAGGC XP_005250020.1:p.Ala730_Asp731insArgGlnAla
XM_005249964.4:c.2063_2064insCCGCCAGGC XP_005250021.1:p.Ala688_Asp689insArgGlnAla
XM_011515883.2:c.2231_2232insCCGCCAGGC XP_011514185.1:p.Ala744_Asp745insArgGlnAla
XM_011515884.2:c.2207_2208insCCGCCAGGC XP_011514186.1:p.Ala736_Asp737insArgGlnAla
XM_011515885.2:c.2204_2205insCCGCCAGGC XP_011514187.1:p.Ala735_Asp736insArgGlnAla
XM_011515886.2:c.2183_2184insCCGCCAGGC XP_011514188.1:p.Ala728_Asp729insArgGlnAla
XM_011515887.3:c.2180_2181insCCGCCAGGC XP_011514189.1:p.Ala727_Asp728insArgGlnAla
XM_011515888.2:c.2180_2181insCCGCCAGGC XP_011514190.1:p.Ala727_Asp728insArgGlnAla
XM_011515889.2:c.2141_2142insCCGCCAGGC XP_011514191.1:p.Ala714_Asp715insArgGlnAla
XM_011515890.2:c.2114_2115insCCGCCAGGC XP_011514192.1:p.Ala705_Asp706insArgGlnAla
XM_011515891.3:c.2108_2109insCCGCCAGGC XP_011514193.1:p.Ala703_Asp704insArgGlnAla
XM_011515892.2:c.2105_2106insCCGCCAGGC XP_011514194.1:p.Ala702_Asp703insArgGlnAla
XM_011515893.2:c.2099_2100insCCGCCAGGC XP_011514195.1:p.Ala700_Asp701insArgGlnAla
XM_011515894.2:c.2090_2091insCCGCCAGGC XP_011514196.1:p.Ala697_Asp698insArgGlnAla
XM_011515895.2:c.2087_2088insCCGCCAGGC XP_011514197.1:p.Ala696_Asp697insArgGlnAla
XM_011515896.2:c.1973_1974insCCGCCAGGC XP_011514198.1:p.Ala658_Asp659insArgGlnAla
XM_011515897.2:c.1880_1881insCCGCCAGGC XP_011514199.1:p.Ala627_Asp628insArgGlnAla
XM_011515898.2:c.1880_1881insCCGCCAGGC XP_011514200.1:p.Ala627_Asp628insArgGlnAla
XM_017011817.2:c.2231_2232insCCGCCAGGC XP_016867306.1:p.Ala744_Asp745insArgGlnAla
XM_017011818.1:c.2168_2169insCCGCCAGGC XP_016867307.1:p.Ala723_Asp724insArgGlnAla
XM_017011819.1:c.2090_2091insCCGCCAGGC XP_016867308.1:p.Ala697_Asp698insArgGlnAla
XM_017011820.2:c.2063_2064insCCGCCAGGC XP_016867309.1:p.Ala688_Asp689insArgGlnAla
XM_017011821.1:c.1865_1866insCCGCCAGGC XP_016867310.1:p.Ala622_Asp623insArgGlnAla
XM_024446680.1:c.2093_2094insCCGCCAGGC XP_024302448.1:p.Ala698_Asp699insArgGlnAla
XR_001744581.1:n.4581_4582insCCGCCAGGC
XR_002956413.1:n.5237_5238insCCGCCAGGC
XR_002956414.1:n.5697_5698insCCGCCAGGC
NM_001203247.2:c.2192_2193insCCGCCAGGC NP_001190176.1:p.Ala731_Asp732insArgGlnAla
NM_001203248.2:c.2165_2166insCCGCCAGGC NP_001190177.1:p.Ala722_Asp723insArgGlnAla
NM_001203249.2:c.2039_2040insCCGCCAGGC NP_001190178.1:p.Ala680_Asp681insArgGlnAla
NM_004456.5:c.2207_2208insCCGCCAGGC MANE Select NP_004447.2:p.Ala736_Asp737insArgGlnAla
NM_152998.3:c.2075_2076insCCGCCAGGC NP_694543.1:p.Ala692_Asp693insArgGlnAla