Canonical Allele Identifier: CA645563932

Gene: EZH2

Linked Data

• COSMIC: COSM144185

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807676_148807677insGTTTTG , CM000669.2:g.148807676_148807677insGTTTTG	GRCh38
NC_000007.13:g.148504768_148504769insGTTTTG , CM000669.1:g.148504768_148504769insGTTTTG	GRCh37
NC_000007.12:g.148135701_148135702insGTTTTG	NCBI36
NG_032043.1:g.81674_81675insAAAACC , LRG_531:g.81674_81675insAAAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4126_4127insAAAACC
ENST00000682317.1:c.*1288_*1289insAAAACC	ENSP00000508286.1:n.*1288_*1289insAAAACC
ENST00000683292.1:c.*1122_*1123insAAAACC	ENSP00000507503.1:n.*1122_*1123insAAAACC
ENST00000683293.1:n.3945_3946insAAAACC
ENST00000683744.1:c.*1288_*1289insAAAACC	ENSP00000506949.1:n.*1288_*1289insAAAACC
ENST00000684300.1:c.*1288_*1289insAAAACC	ENSP00000508407.1:n.*1288_*1289insAAAACC
ENST00000684400.1:n.4213_4214insAAAACC
ENST00000684436.1:n.2542_2543insAAAACC
ENST00000684510.1:n.2604_2605insAAAACC
ENST00000320356.7:c.2226_2227insAAAACC MANE Select	ENSP00000320147.2:p.Val742_Gly743insLysThr
ENST00000320356.6:c.2226_2227insAAAACC	ENSP00000320147.2:p.Val742_Gly743insLysThr
ENST00000350995.6:c.2094_2095insAAAACC	ENSP00000223193.2:p.Val698_Gly699insLysThr
ENST00000460911.5:c.2211_2212insAAAACC	ENSP00000419711.1:p.Val737_Gly738insLysThr
ENST00000476773.5:c.2058_2059insAAAACC	ENSP00000419050.1:p.Val686_Gly687insLysThr
ENST00000478654.5:c.2058_2059insAAAACC	ENSP00000417062.1:p.Val686_Gly687insLysThr
ENST00000483967.5:c.2184_2185insAAAACC	ENSP00000419856.1:p.Val728_Gly729insLysThr
ENST00000492143.5:c.*2216_*2217insAAAACC	ENSP00000417377.1:n.*2216_*2217insAAAACC
NM_001203247.1:c.2211_2212insAAAACC	NP_001190176.1:p.Val737_Gly738insLysThr
NM_001203248.1:c.2184_2185insAAAACC	NP_001190177.1:p.Val728_Gly729insLysThr
NM_001203249.1:c.2058_2059insAAAACC	NP_001190178.1:p.Val686_Gly687insLysThr
NM_004456.4:c.2226_2227insAAAACC , LRG_531t1:c.2226_2227insAAAACC	NP_004447.2:p.Val742_Gly743insLysThr
NM_152998.2:c.2094_2095insAAAACC	NP_694543.1:p.Val698_Gly699insLysThr
XM_005249962.3:c.2235_2236insAAAACC	XP_005250019.1:p.Val745_Gly746insLysThr
XM_005249963.3:c.2208_2209insAAAACC	XP_005250020.1:p.Val736_Gly737insLysThr
XM_005249964.3:c.2082_2083insAAAACC	XP_005250021.1:p.Val694_Gly695insLysThr
XM_011515883.1:c.2250_2251insAAAACC	XP_011514185.1:p.Val750_Gly751insLysThr
XM_011515884.1:c.2226_2227insAAAACC	XP_011514186.1:p.Val742_Gly743insLysThr
XM_011515885.1:c.2223_2224insAAAACC	XP_011514187.1:p.Val741_Gly742insLysThr
XM_011515886.1:c.2202_2203insAAAACC	XP_011514188.1:p.Val734_Gly735insLysThr
XM_011515887.1:c.2199_2200insAAAACC	XP_011514189.1:p.Val733_Gly734insLysThr
XM_011515888.1:c.2199_2200insAAAACC	XP_011514190.1:p.Val733_Gly734insLysThr
XM_011515889.1:c.2160_2161insAAAACC	XP_011514191.1:p.Val720_Gly721insLysThr
XM_011515890.1:c.2133_2134insAAAACC	XP_011514192.1:p.Val711_Gly712insLysThr
XM_011515891.1:c.2127_2128insAAAACC	XP_011514193.1:p.Val709_Gly710insLysThr
XM_011515892.1:c.2124_2125insAAAACC	XP_011514194.1:p.Val708_Gly709insLysThr
XM_011515893.1:c.2118_2119insAAAACC	XP_011514195.1:p.Val706_Gly707insLysThr
XM_011515894.1:c.2109_2110insAAAACC	XP_011514196.1:p.Val703_Gly704insLysThr
XM_011515895.1:c.2106_2107insAAAACC	XP_011514197.1:p.Val702_Gly703insLysThr
XM_011515896.1:c.1992_1993insAAAACC	XP_011514198.1:p.Val664_Gly665insLysThr
XM_011515897.1:c.1899_1900insAAAACC	XP_011514199.1:p.Val633_Gly634insLysThr
XM_011515898.1:c.1899_1900insAAAACC	XP_011514200.1:p.Val633_Gly634insLysThr
XR_928101.1:n.515+2591_515+2592insGTTTTG
XR_928102.1:n.722+2591_722+2592insGTTTTG
XM_005249962.4:c.2235_2236insAAAACC	XP_005250019.1:p.Val745_Gly746insLysThr
XM_005249963.4:c.2208_2209insAAAACC	XP_005250020.1:p.Val736_Gly737insLysThr
XM_005249964.4:c.2082_2083insAAAACC	XP_005250021.1:p.Val694_Gly695insLysThr
XM_011515883.2:c.2250_2251insAAAACC	XP_011514185.1:p.Val750_Gly751insLysThr
XM_011515884.2:c.2226_2227insAAAACC	XP_011514186.1:p.Val742_Gly743insLysThr
XM_011515885.2:c.2223_2224insAAAACC	XP_011514187.1:p.Val741_Gly742insLysThr
XM_011515886.2:c.2202_2203insAAAACC	XP_011514188.1:p.Val734_Gly735insLysThr
XM_011515887.3:c.2199_2200insAAAACC	XP_011514189.1:p.Val733_Gly734insLysThr
XM_011515888.2:c.2199_2200insAAAACC	XP_011514190.1:p.Val733_Gly734insLysThr
XM_011515889.2:c.2160_2161insAAAACC	XP_011514191.1:p.Val720_Gly721insLysThr
XM_011515890.2:c.2133_2134insAAAACC	XP_011514192.1:p.Val711_Gly712insLysThr
XM_011515891.3:c.2127_2128insAAAACC	XP_011514193.1:p.Val709_Gly710insLysThr
XM_011515892.2:c.2124_2125insAAAACC	XP_011514194.1:p.Val708_Gly709insLysThr
XM_011515893.2:c.2118_2119insAAAACC	XP_011514195.1:p.Val706_Gly707insLysThr
XM_011515894.2:c.2109_2110insAAAACC	XP_011514196.1:p.Val703_Gly704insLysThr
XM_011515895.2:c.2106_2107insAAAACC	XP_011514197.1:p.Val702_Gly703insLysThr
XM_011515896.2:c.1992_1993insAAAACC	XP_011514198.1:p.Val664_Gly665insLysThr
XM_011515897.2:c.1899_1900insAAAACC	XP_011514199.1:p.Val633_Gly634insLysThr
XM_011515898.2:c.1899_1900insAAAACC	XP_011514200.1:p.Val633_Gly634insLysThr
XM_017011817.2:c.2250_2251insAAAACC	XP_016867306.1:p.Val750_Gly751insLysThr
XM_017011818.1:c.2187_2188insAAAACC	XP_016867307.1:p.Val729_Gly730insLysThr
XM_017011819.1:c.2109_2110insAAAACC	XP_016867308.1:p.Val703_Gly704insLysThr
XM_017011820.2:c.2082_2083insAAAACC	XP_016867309.1:p.Val694_Gly695insLysThr
XM_017011821.1:c.1884_1885insAAAACC	XP_016867310.1:p.Val628_Gly629insLysThr
XM_024446680.1:c.2112_2113insAAAACC	XP_024302448.1:p.Val704_Gly705insLysThr
XR_001744581.1:n.4600_4601insAAAACC
XR_002956413.1:n.5256_5257insAAAACC
XR_002956414.1:n.5716_5717insAAAACC
NM_001203247.2:c.2211_2212insAAAACC	NP_001190176.1:p.Val737_Gly738insLysThr
NM_001203248.2:c.2184_2185insAAAACC	NP_001190177.1:p.Val728_Gly729insLysThr
NM_001203249.2:c.2058_2059insAAAACC	NP_001190178.1:p.Val686_Gly687insLysThr
NM_004456.5:c.2226_2227insAAAACC MANE Select	NP_004447.2:p.Val742_Gly743insLysThr
NM_152998.3:c.2094_2095insAAAACC	NP_694543.1:p.Val698_Gly699insLysThr