Canonical Allele Identifier: CA645563930

Gene: EZH2

Linked Data

• COSMIC: COSM6023067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807676_148807677insGGGACG , CM000669.2:g.148807676_148807677insGGGACG	GRCh38
NC_000007.13:g.148504768_148504769insGGGACG , CM000669.1:g.148504768_148504769insGGGACG	GRCh37
NC_000007.12:g.148135701_148135702insGGGACG	NCBI36
NG_032043.1:g.81675_81676insTCCCCG , LRG_531:g.81675_81676insTCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4127_4128insTCCCCG
ENST00000682317.1:c.*1289_*1290insTCCCCG	ENSP00000508286.1:n.*1289_*1290insTCCCCG
ENST00000683292.1:c.*1123_*1124insTCCCCG	ENSP00000507503.1:n.*1123_*1124insTCCCCG
ENST00000683293.1:n.3946_3947insTCCCCG
ENST00000683744.1:c.*1289_*1290insTCCCCG	ENSP00000506949.1:n.*1289_*1290insTCCCCG
ENST00000684300.1:c.*1289_*1290insTCCCCG	ENSP00000508407.1:n.*1289_*1290insTCCCCG
ENST00000684400.1:n.4214_4215insTCCCCG
ENST00000684436.1:n.2543_2544insTCCCCG
ENST00000684510.1:n.2605_2606insTCCCCG
ENST00000320356.7:c.2227_2228insTCCCCG MANE Select	ENSP00000320147.2:p.Val742_Gly743insValPro
ENST00000320356.6:c.2227_2228insTCCCCG	ENSP00000320147.2:p.Val742_Gly743insValPro
ENST00000350995.6:c.2095_2096insTCCCCG	ENSP00000223193.2:p.Val698_Gly699insValPro
ENST00000460911.5:c.2212_2213insTCCCCG	ENSP00000419711.1:p.Val737_Gly738insValPro
ENST00000476773.5:c.2059_2060insTCCCCG	ENSP00000419050.1:p.Val686_Gly687insValPro
ENST00000478654.5:c.2059_2060insTCCCCG	ENSP00000417062.1:p.Val686_Gly687insValPro
ENST00000483967.5:c.2185_2186insTCCCCG	ENSP00000419856.1:p.Val728_Gly729insValPro
ENST00000492143.5:c.*2217_*2218insTCCCCG	ENSP00000417377.1:n.*2217_*2218insTCCCCG
NM_001203247.1:c.2212_2213insTCCCCG	NP_001190176.1:p.Val737_Gly738insValPro
NM_001203248.1:c.2185_2186insTCCCCG	NP_001190177.1:p.Val728_Gly729insValPro
NM_001203249.1:c.2059_2060insTCCCCG	NP_001190178.1:p.Val686_Gly687insValPro
NM_004456.4:c.2227_2228insTCCCCG , LRG_531t1:c.2227_2228insTCCCCG	NP_004447.2:p.Val742_Gly743insValPro
NM_152998.2:c.2095_2096insTCCCCG	NP_694543.1:p.Val698_Gly699insValPro
XM_005249962.3:c.2236_2237insTCCCCG	XP_005250019.1:p.Val745_Gly746insValPro
XM_005249963.3:c.2209_2210insTCCCCG	XP_005250020.1:p.Val736_Gly737insValPro
XM_005249964.3:c.2083_2084insTCCCCG	XP_005250021.1:p.Val694_Gly695insValPro
XM_011515883.1:c.2251_2252insTCCCCG	XP_011514185.1:p.Val750_Gly751insValPro
XM_011515884.1:c.2227_2228insTCCCCG	XP_011514186.1:p.Val742_Gly743insValPro
XM_011515885.1:c.2224_2225insTCCCCG	XP_011514187.1:p.Val741_Gly742insValPro
XM_011515886.1:c.2203_2204insTCCCCG	XP_011514188.1:p.Val734_Gly735insValPro
XM_011515887.1:c.2200_2201insTCCCCG	XP_011514189.1:p.Val733_Gly734insValPro
XM_011515888.1:c.2200_2201insTCCCCG	XP_011514190.1:p.Val733_Gly734insValPro
XM_011515889.1:c.2161_2162insTCCCCG	XP_011514191.1:p.Val720_Gly721insValPro
XM_011515890.1:c.2134_2135insTCCCCG	XP_011514192.1:p.Val711_Gly712insValPro
XM_011515891.1:c.2128_2129insTCCCCG	XP_011514193.1:p.Val709_Gly710insValPro
XM_011515892.1:c.2125_2126insTCCCCG	XP_011514194.1:p.Val708_Gly709insValPro
XM_011515893.1:c.2119_2120insTCCCCG	XP_011514195.1:p.Val706_Gly707insValPro
XM_011515894.1:c.2110_2111insTCCCCG	XP_011514196.1:p.Val703_Gly704insValPro
XM_011515895.1:c.2107_2108insTCCCCG	XP_011514197.1:p.Val702_Gly703insValPro
XM_011515896.1:c.1993_1994insTCCCCG	XP_011514198.1:p.Val664_Gly665insValPro
XM_011515897.1:c.1900_1901insTCCCCG	XP_011514199.1:p.Val633_Gly634insValPro
XM_011515898.1:c.1900_1901insTCCCCG	XP_011514200.1:p.Val633_Gly634insValPro
XR_928101.1:n.515+2591_515+2592insGGGACG
XR_928102.1:n.722+2591_722+2592insGGGACG
XM_005249962.4:c.2236_2237insTCCCCG	XP_005250019.1:p.Val745_Gly746insValPro
XM_005249963.4:c.2209_2210insTCCCCG	XP_005250020.1:p.Val736_Gly737insValPro
XM_005249964.4:c.2083_2084insTCCCCG	XP_005250021.1:p.Val694_Gly695insValPro
XM_011515883.2:c.2251_2252insTCCCCG	XP_011514185.1:p.Val750_Gly751insValPro
XM_011515884.2:c.2227_2228insTCCCCG	XP_011514186.1:p.Val742_Gly743insValPro
XM_011515885.2:c.2224_2225insTCCCCG	XP_011514187.1:p.Val741_Gly742insValPro
XM_011515886.2:c.2203_2204insTCCCCG	XP_011514188.1:p.Val734_Gly735insValPro
XM_011515887.3:c.2200_2201insTCCCCG	XP_011514189.1:p.Val733_Gly734insValPro
XM_011515888.2:c.2200_2201insTCCCCG	XP_011514190.1:p.Val733_Gly734insValPro
XM_011515889.2:c.2161_2162insTCCCCG	XP_011514191.1:p.Val720_Gly721insValPro
XM_011515890.2:c.2134_2135insTCCCCG	XP_011514192.1:p.Val711_Gly712insValPro
XM_011515891.3:c.2128_2129insTCCCCG	XP_011514193.1:p.Val709_Gly710insValPro
XM_011515892.2:c.2125_2126insTCCCCG	XP_011514194.1:p.Val708_Gly709insValPro
XM_011515893.2:c.2119_2120insTCCCCG	XP_011514195.1:p.Val706_Gly707insValPro
XM_011515894.2:c.2110_2111insTCCCCG	XP_011514196.1:p.Val703_Gly704insValPro
XM_011515895.2:c.2107_2108insTCCCCG	XP_011514197.1:p.Val702_Gly703insValPro
XM_011515896.2:c.1993_1994insTCCCCG	XP_011514198.1:p.Val664_Gly665insValPro
XM_011515897.2:c.1900_1901insTCCCCG	XP_011514199.1:p.Val633_Gly634insValPro
XM_011515898.2:c.1900_1901insTCCCCG	XP_011514200.1:p.Val633_Gly634insValPro
XM_017011817.2:c.2251_2252insTCCCCG	XP_016867306.1:p.Val750_Gly751insValPro
XM_017011818.1:c.2188_2189insTCCCCG	XP_016867307.1:p.Val729_Gly730insValPro
XM_017011819.1:c.2110_2111insTCCCCG	XP_016867308.1:p.Val703_Gly704insValPro
XM_017011820.2:c.2083_2084insTCCCCG	XP_016867309.1:p.Val694_Gly695insValPro
XM_017011821.1:c.1885_1886insTCCCCG	XP_016867310.1:p.Val628_Gly629insValPro
XM_024446680.1:c.2113_2114insTCCCCG	XP_024302448.1:p.Val704_Gly705insValPro
XR_001744581.1:n.4601_4602insTCCCCG
XR_002956413.1:n.5257_5258insTCCCCG
XR_002956414.1:n.5717_5718insTCCCCG
NM_001203247.2:c.2212_2213insTCCCCG	NP_001190176.1:p.Val737_Gly738insValPro
NM_001203248.2:c.2185_2186insTCCCCG	NP_001190177.1:p.Val728_Gly729insValPro
NM_001203249.2:c.2059_2060insTCCCCG	NP_001190178.1:p.Val686_Gly687insValPro
NM_004456.5:c.2227_2228insTCCCCG MANE Select	NP_004447.2:p.Val742_Gly743insValPro
NM_152998.3:c.2095_2096insTCCCCG	NP_694543.1:p.Val698_Gly699insValPro