Canonical Allele Identifier: CA645563925

Gene: EZH2

Linked Data

• COSMIC: COSM1319005 ; COSM1319006

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807671_148807672insATGCA , CM000669.2:g.148807671_148807672insATGCA	GRCh38
NC_000007.13:g.148504763_148504764insATGCA , CM000669.1:g.148504763_148504764insATGCA	GRCh37
NC_000007.12:g.148135696_148135697insATGCA	NCBI36
NG_032043.1:g.81679_81680insGCATT , LRG_531:g.81679_81680insGCATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4131_4132insGCATT
ENST00000682317.1:c.*1293_*1294insGCATT	ENSP00000508286.1:n.*1293_*1294insGCATT
ENST00000683292.1:c.*1127_*1128insGCATT	ENSP00000507503.1:n.*1127_*1128insGCATT
ENST00000683293.1:n.3950_3951insGCATT
ENST00000683744.1:c.*1293_*1294insGCATT	ENSP00000506949.1:n.*1293_*1294insGCATT
ENST00000684300.1:c.*1293_*1294insGCATT	ENSP00000508407.1:n.*1293_*1294insGCATT
ENST00000684400.1:n.4218_4219insGCATT
ENST00000684436.1:n.2547_2548insGCATT
ENST00000684510.1:n.2609_2610insGCATT
ENST00000320356.7:c.2231_2232insGCATT MANE Select	ENSP00000320147.2:p.Ile744MetfsTer25
ENST00000320356.6:c.2231_2232insGCATT	ENSP00000320147.2:p.Ile744MetfsTer25
ENST00000350995.6:c.2099_2100insGCATT	ENSP00000223193.2:p.Ile700MetfsTer25
ENST00000460911.5:c.2216_2217insGCATT	ENSP00000419711.1:p.Ile739MetfsTer25
ENST00000476773.5:c.2063_2064insGCATT	ENSP00000419050.1:p.Ile688MetfsTer25
ENST00000478654.5:c.2063_2064insGCATT	ENSP00000417062.1:p.Ile688MetfsTer25
ENST00000483967.5:c.2189_2190insGCATT	ENSP00000419856.1:p.Ile730MetfsTer25
ENST00000492143.5:c.*2221_*2222insGCATT	ENSP00000417377.1:n.*2221_*2222insGCATT
NM_001203247.1:c.2216_2217insGCATT	NP_001190176.1:p.Ile739MetfsTer25
NM_001203248.1:c.2189_2190insGCATT	NP_001190177.1:p.Ile730MetfsTer25
NM_001203249.1:c.2063_2064insGCATT	NP_001190178.1:p.Ile688MetfsTer25
NM_004456.4:c.2231_2232insGCATT , LRG_531t1:c.2231_2232insGCATT	NP_004447.2:p.Ile744MetfsTer25
NM_152998.2:c.2099_2100insGCATT	NP_694543.1:p.Ile700MetfsTer25
XM_005249962.3:c.2240_2241insGCATT	XP_005250019.1:p.Ile747MetfsTer25
XM_005249963.3:c.2213_2214insGCATT	XP_005250020.1:p.Ile738MetfsTer25
XM_005249964.3:c.2087_2088insGCATT	XP_005250021.1:p.Ile696MetfsTer25
XM_011515883.1:c.2255_2256insGCATT	XP_011514185.1:p.Ile752MetfsTer25
XM_011515884.1:c.2231_2232insGCATT	XP_011514186.1:p.Ile744MetfsTer25
XM_011515885.1:c.2228_2229insGCATT	XP_011514187.1:p.Ile743MetfsTer25
XM_011515886.1:c.2207_2208insGCATT	XP_011514188.1:p.Ile736MetfsTer25
XM_011515887.1:c.2204_2205insGCATT	XP_011514189.1:p.Ile735MetfsTer25
XM_011515888.1:c.2204_2205insGCATT	XP_011514190.1:p.Ile735MetfsTer25
XM_011515889.1:c.2165_2166insGCATT	XP_011514191.1:p.Ile722MetfsTer25
XM_011515890.1:c.2138_2139insGCATT	XP_011514192.1:p.Ile713MetfsTer25
XM_011515891.1:c.2132_2133insGCATT	XP_011514193.1:p.Ile711MetfsTer25
XM_011515892.1:c.2129_2130insGCATT	XP_011514194.1:p.Ile710MetfsTer25
XM_011515893.1:c.2123_2124insGCATT	XP_011514195.1:p.Ile708MetfsTer25
XM_011515894.1:c.2114_2115insGCATT	XP_011514196.1:p.Ile705MetfsTer25
XM_011515895.1:c.2111_2112insGCATT	XP_011514197.1:p.Ile704MetfsTer25
XM_011515896.1:c.1997_1998insGCATT	XP_011514198.1:p.Ile666MetfsTer25
XM_011515897.1:c.1904_1905insGCATT	XP_011514199.1:p.Ile635MetfsTer25
XM_011515898.1:c.1904_1905insGCATT	XP_011514200.1:p.Ile635MetfsTer25
XR_928101.1:n.515+2586_515+2587insATGCA
XR_928102.1:n.722+2586_722+2587insATGCA
XM_005249962.4:c.2240_2241insGCATT	XP_005250019.1:p.Ile747MetfsTer25
XM_005249963.4:c.2213_2214insGCATT	XP_005250020.1:p.Ile738MetfsTer25
XM_005249964.4:c.2087_2088insGCATT	XP_005250021.1:p.Ile696MetfsTer25
XM_011515883.2:c.2255_2256insGCATT	XP_011514185.1:p.Ile752MetfsTer25
XM_011515884.2:c.2231_2232insGCATT	XP_011514186.1:p.Ile744MetfsTer25
XM_011515885.2:c.2228_2229insGCATT	XP_011514187.1:p.Ile743MetfsTer25
XM_011515886.2:c.2207_2208insGCATT	XP_011514188.1:p.Ile736MetfsTer25
XM_011515887.3:c.2204_2205insGCATT	XP_011514189.1:p.Ile735MetfsTer25
XM_011515888.2:c.2204_2205insGCATT	XP_011514190.1:p.Ile735MetfsTer25
XM_011515889.2:c.2165_2166insGCATT	XP_011514191.1:p.Ile722MetfsTer25
XM_011515890.2:c.2138_2139insGCATT	XP_011514192.1:p.Ile713MetfsTer25
XM_011515891.3:c.2132_2133insGCATT	XP_011514193.1:p.Ile711MetfsTer25
XM_011515892.2:c.2129_2130insGCATT	XP_011514194.1:p.Ile710MetfsTer25
XM_011515893.2:c.2123_2124insGCATT	XP_011514195.1:p.Ile708MetfsTer25
XM_011515894.2:c.2114_2115insGCATT	XP_011514196.1:p.Ile705MetfsTer25
XM_011515895.2:c.2111_2112insGCATT	XP_011514197.1:p.Ile704MetfsTer25
XM_011515896.2:c.1997_1998insGCATT	XP_011514198.1:p.Ile666MetfsTer25
XM_011515897.2:c.1904_1905insGCATT	XP_011514199.1:p.Ile635MetfsTer25
XM_011515898.2:c.1904_1905insGCATT	XP_011514200.1:p.Ile635MetfsTer25
XM_017011817.2:c.2255_2256insGCATT	XP_016867306.1:p.Ile752MetfsTer25
XM_017011818.1:c.2192_2193insGCATT	XP_016867307.1:p.Ile731MetfsTer25
XM_017011819.1:c.2114_2115insGCATT	XP_016867308.1:p.Ile705MetfsTer25
XM_017011820.2:c.2087_2088insGCATT	XP_016867309.1:p.Ile696MetfsTer25
XM_017011821.1:c.1889_1890insGCATT	XP_016867310.1:p.Ile630MetfsTer25
XM_024446680.1:c.2117_2118insGCATT	XP_024302448.1:p.Ile706MetfsTer25
XR_001744581.1:n.4605_4606insGCATT
XR_002956413.1:n.5261_5262insGCATT
XR_002956414.1:n.5721_5722insGCATT
NM_001203247.2:c.2216_2217insGCATT	NP_001190176.1:p.Ile739MetfsTer25
NM_001203248.2:c.2189_2190insGCATT	NP_001190177.1:p.Ile730MetfsTer25
NM_001203249.2:c.2063_2064insGCATT	NP_001190178.1:p.Ile688MetfsTer25
NM_004456.5:c.2231_2232insGCATT MANE Select	NP_004447.2:p.Ile744MetfsTer25
NM_152998.3:c.2099_2100insGCATT	NP_694543.1:p.Ile700MetfsTer25