Canonical Allele Identifier: CA645563934

Gene: EZH2

Linked Data

• COSMIC: COSM6023079

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807698_148807700del , CM000669.2:g.148807698_148807700del	GRCh38
NC_000007.13:g.148504790_148504792del , CM000669.1:g.148504790_148504792del	GRCh37
NC_000007.12:g.148135723_148135725del	NCBI36
NG_032043.1:g.81650_81652del , LRG_531:g.81650_81652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4102_4104del
ENST00000682317.1:c.*1264_*1266del	ENSP00000508286.1:n.*1264_*1266del
ENST00000683292.1:c.*1098_*1100del	ENSP00000507503.1:n.*1098_*1100del
ENST00000683293.1:n.3921_3923del
ENST00000683744.1:c.*1264_*1266del	ENSP00000506949.1:n.*1264_*1266del
ENST00000684300.1:c.*1264_*1266del	ENSP00000508407.1:n.*1264_*1266del
ENST00000684400.1:n.4189_4191del
ENST00000684436.1:n.2518_2520del
ENST00000684510.1:n.2580_2582del
ENST00000320356.7:c.2202_2204del MANE Select	ENSP00000320147.2:p.Ser734_Gln735delinsArg
ENST00000320356.6:c.2202_2204del	ENSP00000320147.2:p.Ser734_Gln735delinsArg
ENST00000350995.6:c.2070_2072del	ENSP00000223193.2:p.Ser690_Gln691delinsArg
ENST00000460911.5:c.2187_2189del	ENSP00000419711.1:p.Ser729_Gln730delinsArg
ENST00000476773.5:c.2034_2036del	ENSP00000419050.1:p.Ser678_Gln679delinsArg
ENST00000478654.5:c.2034_2036del	ENSP00000417062.1:p.Ser678_Gln679delinsArg
ENST00000483967.5:c.2160_2162del	ENSP00000419856.1:p.Ser720_Gln721delinsArg
ENST00000492143.5:c.*2192_*2194del	ENSP00000417377.1:n.*2192_*2194del
NM_001203247.1:c.2187_2189del	NP_001190176.1:p.Ser729_Gln730delinsArg
NM_001203248.1:c.2160_2162del	NP_001190177.1:p.Ser720_Gln721delinsArg
NM_001203249.1:c.2034_2036del	NP_001190178.1:p.Ser678_Gln679delinsArg
NM_004456.4:c.2202_2204del , LRG_531t1:c.2202_2204del	NP_004447.2:p.Ser734_Gln735delinsArg
NM_152998.2:c.2070_2072del	NP_694543.1:p.Ser690_Gln691delinsArg
XM_005249962.3:c.2211_2213del	XP_005250019.1:p.Ser737_Gln738delinsArg
XM_005249963.3:c.2184_2186del	XP_005250020.1:p.Ser728_Gln729delinsArg
XM_005249964.3:c.2058_2060del	XP_005250021.1:p.Ser686_Gln687delinsArg
XM_011515883.1:c.2226_2228del	XP_011514185.1:p.Ser742_Gln743delinsArg
XM_011515884.1:c.2202_2204del	XP_011514186.1:p.Ser734_Gln735delinsArg
XM_011515885.1:c.2199_2201del	XP_011514187.1:p.Ser733_Gln734delinsArg
XM_011515886.1:c.2178_2180del	XP_011514188.1:p.Ser726_Gln727delinsArg
XM_011515887.1:c.2175_2177del	XP_011514189.1:p.Ser725_Gln726delinsArg
XM_011515888.1:c.2175_2177del	XP_011514190.1:p.Ser725_Gln726delinsArg
XM_011515889.1:c.2136_2138del	XP_011514191.1:p.Ser712_Gln713delinsArg
XM_011515890.1:c.2109_2111del	XP_011514192.1:p.Ser703_Gln704delinsArg
XM_011515891.1:c.2103_2105del	XP_011514193.1:p.Ser701_Gln702delinsArg
XM_011515892.1:c.2100_2102del	XP_011514194.1:p.Ser700_Gln701delinsArg
XM_011515893.1:c.2094_2096del	XP_011514195.1:p.Ser698_Gln699delinsArg
XM_011515894.1:c.2085_2087del	XP_011514196.1:p.Ser695_Gln696delinsArg
XM_011515895.1:c.2082_2084del	XP_011514197.1:p.Ser694_Gln695delinsArg
XM_011515896.1:c.1968_1970del	XP_011514198.1:p.Ser656_Gln657delinsArg
XM_011515897.1:c.1875_1877del	XP_011514199.1:p.Ser625_Gln626delinsArg
XM_011515898.1:c.1875_1877del	XP_011514200.1:p.Ser625_Gln626delinsArg
XR_928101.1:n.515+2613_515+2615del
XR_928102.1:n.722+2613_722+2615del
XM_005249962.4:c.2211_2213del	XP_005250019.1:p.Ser737_Gln738delinsArg
XM_005249963.4:c.2184_2186del	XP_005250020.1:p.Ser728_Gln729delinsArg
XM_005249964.4:c.2058_2060del	XP_005250021.1:p.Ser686_Gln687delinsArg
XM_011515883.2:c.2226_2228del	XP_011514185.1:p.Ser742_Gln743delinsArg
XM_011515884.2:c.2202_2204del	XP_011514186.1:p.Ser734_Gln735delinsArg
XM_011515885.2:c.2199_2201del	XP_011514187.1:p.Ser733_Gln734delinsArg
XM_011515886.2:c.2178_2180del	XP_011514188.1:p.Ser726_Gln727delinsArg
XM_011515887.3:c.2175_2177del	XP_011514189.1:p.Ser725_Gln726delinsArg
XM_011515888.2:c.2175_2177del	XP_011514190.1:p.Ser725_Gln726delinsArg
XM_011515889.2:c.2136_2138del	XP_011514191.1:p.Ser712_Gln713delinsArg
XM_011515890.2:c.2109_2111del	XP_011514192.1:p.Ser703_Gln704delinsArg
XM_011515891.3:c.2103_2105del	XP_011514193.1:p.Ser701_Gln702delinsArg
XM_011515892.2:c.2100_2102del	XP_011514194.1:p.Ser700_Gln701delinsArg
XM_011515893.2:c.2094_2096del	XP_011514195.1:p.Ser698_Gln699delinsArg
XM_011515894.2:c.2085_2087del	XP_011514196.1:p.Ser695_Gln696delinsArg
XM_011515895.2:c.2082_2084del	XP_011514197.1:p.Ser694_Gln695delinsArg
XM_011515896.2:c.1968_1970del	XP_011514198.1:p.Ser656_Gln657delinsArg
XM_011515897.2:c.1875_1877del	XP_011514199.1:p.Ser625_Gln626delinsArg
XM_011515898.2:c.1875_1877del	XP_011514200.1:p.Ser625_Gln626delinsArg
XM_017011817.2:c.2226_2228del	XP_016867306.1:p.Ser742_Gln743delinsArg
XM_017011818.1:c.2163_2165del	XP_016867307.1:p.Ser721_Gln722delinsArg
XM_017011819.1:c.2085_2087del	XP_016867308.1:p.Ser695_Gln696delinsArg
XM_017011820.2:c.2058_2060del	XP_016867309.1:p.Ser686_Gln687delinsArg
XM_017011821.1:c.1860_1862del	XP_016867310.1:p.Ser620_Gln621delinsArg
XM_024446680.1:c.2088_2090del	XP_024302448.1:p.Ser696_Gln697delinsArg
XR_001744581.1:n.4576_4578del
XR_002956413.1:n.5232_5234del
XR_002956414.1:n.5692_5694del
NM_001203247.2:c.2187_2189del	NP_001190176.1:p.Ser729_Gln730delinsArg
NM_001203248.2:c.2160_2162del	NP_001190177.1:p.Ser720_Gln721delinsArg
NM_001203249.2:c.2034_2036del	NP_001190178.1:p.Ser678_Gln679delinsArg
NM_004456.5:c.2202_2204del MANE Select	NP_004447.2:p.Ser734_Gln735delinsArg
NM_152998.3:c.2070_2072del	NP_694543.1:p.Ser690_Gln691delinsArg