Canonical Allele Identifier: CA645563928

Gene: EZH2

Linked Data

• COSMIC: COSM5944530

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807674_148807675insACC , CM000669.2:g.148807674_148807675insACC	GRCh38
NC_000007.13:g.148504766_148504767insACC , CM000669.1:g.148504766_148504767insACC	GRCh37
NC_000007.12:g.148135699_148135700insACC	NCBI36
NG_032043.1:g.81676_81677insGTG , LRG_531:g.81676_81677insGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4128_4129insGTG
ENST00000682317.1:c.*1290_*1291insGTG	ENSP00000508286.1:n.*1290_*1291insGTG
ENST00000683292.1:c.*1124_*1125insGTG	ENSP00000507503.1:n.*1124_*1125insGTG
ENST00000683293.1:n.3947_3948insGTG
ENST00000683744.1:c.*1290_*1291insGTG	ENSP00000506949.1:n.*1290_*1291insGTG
ENST00000684300.1:c.*1290_*1291insGTG	ENSP00000508407.1:n.*1290_*1291insGTG
ENST00000684400.1:n.4215_4216insGTG
ENST00000684436.1:n.2544_2545insGTG
ENST00000684510.1:n.2606_2607insGTG
ENST00000320356.7:c.2228_2229insGTG MANE Select	ENSP00000320147.2:p.Gly743_Ile744insCys
ENST00000320356.6:c.2228_2229insGTG	ENSP00000320147.2:p.Gly743_Ile744insCys
ENST00000350995.6:c.2096_2097insGTG	ENSP00000223193.2:p.Gly699_Ile700insCys
ENST00000460911.5:c.2213_2214insGTG	ENSP00000419711.1:p.Gly738_Ile739insCys
ENST00000476773.5:c.2060_2061insGTG	ENSP00000419050.1:p.Gly687_Ile688insCys
ENST00000478654.5:c.2060_2061insGTG	ENSP00000417062.1:p.Gly687_Ile688insCys
ENST00000483967.5:c.2186_2187insGTG	ENSP00000419856.1:p.Gly729_Ile730insCys
ENST00000492143.5:c.*2218_*2219insGTG	ENSP00000417377.1:n.*2218_*2219insGTG
NM_001203247.1:c.2213_2214insGTG	NP_001190176.1:p.Gly738_Ile739insCys
NM_001203248.1:c.2186_2187insGTG	NP_001190177.1:p.Gly729_Ile730insCys
NM_001203249.1:c.2060_2061insGTG	NP_001190178.1:p.Gly687_Ile688insCys
NM_004456.4:c.2228_2229insGTG , LRG_531t1:c.2228_2229insGTG	NP_004447.2:p.Gly743_Ile744insCys
NM_152998.2:c.2096_2097insGTG	NP_694543.1:p.Gly699_Ile700insCys
XM_005249962.3:c.2237_2238insGTG	XP_005250019.1:p.Gly746_Ile747insCys
XM_005249963.3:c.2210_2211insGTG	XP_005250020.1:p.Gly737_Ile738insCys
XM_005249964.3:c.2084_2085insGTG	XP_005250021.1:p.Gly695_Ile696insCys
XM_011515883.1:c.2252_2253insGTG	XP_011514185.1:p.Gly751_Ile752insCys
XM_011515884.1:c.2228_2229insGTG	XP_011514186.1:p.Gly743_Ile744insCys
XM_011515885.1:c.2225_2226insGTG	XP_011514187.1:p.Gly742_Ile743insCys
XM_011515886.1:c.2204_2205insGTG	XP_011514188.1:p.Gly735_Ile736insCys
XM_011515887.1:c.2201_2202insGTG	XP_011514189.1:p.Gly734_Ile735insCys
XM_011515888.1:c.2201_2202insGTG	XP_011514190.1:p.Gly734_Ile735insCys
XM_011515889.1:c.2162_2163insGTG	XP_011514191.1:p.Gly721_Ile722insCys
XM_011515890.1:c.2135_2136insGTG	XP_011514192.1:p.Gly712_Ile713insCys
XM_011515891.1:c.2129_2130insGTG	XP_011514193.1:p.Gly710_Ile711insCys
XM_011515892.1:c.2126_2127insGTG	XP_011514194.1:p.Gly709_Ile710insCys
XM_011515893.1:c.2120_2121insGTG	XP_011514195.1:p.Gly707_Ile708insCys
XM_011515894.1:c.2111_2112insGTG	XP_011514196.1:p.Gly704_Ile705insCys
XM_011515895.1:c.2108_2109insGTG	XP_011514197.1:p.Gly703_Ile704insCys
XM_011515896.1:c.1994_1995insGTG	XP_011514198.1:p.Gly665_Ile666insCys
XM_011515897.1:c.1901_1902insGTG	XP_011514199.1:p.Gly634_Ile635insCys
XM_011515898.1:c.1901_1902insGTG	XP_011514200.1:p.Gly634_Ile635insCys
XR_928101.1:n.515+2589_515+2590insACC
XR_928102.1:n.722+2589_722+2590insACC
XM_005249962.4:c.2237_2238insGTG	XP_005250019.1:p.Gly746_Ile747insCys
XM_005249963.4:c.2210_2211insGTG	XP_005250020.1:p.Gly737_Ile738insCys
XM_005249964.4:c.2084_2085insGTG	XP_005250021.1:p.Gly695_Ile696insCys
XM_011515883.2:c.2252_2253insGTG	XP_011514185.1:p.Gly751_Ile752insCys
XM_011515884.2:c.2228_2229insGTG	XP_011514186.1:p.Gly743_Ile744insCys
XM_011515885.2:c.2225_2226insGTG	XP_011514187.1:p.Gly742_Ile743insCys
XM_011515886.2:c.2204_2205insGTG	XP_011514188.1:p.Gly735_Ile736insCys
XM_011515887.3:c.2201_2202insGTG	XP_011514189.1:p.Gly734_Ile735insCys
XM_011515888.2:c.2201_2202insGTG	XP_011514190.1:p.Gly734_Ile735insCys
XM_011515889.2:c.2162_2163insGTG	XP_011514191.1:p.Gly721_Ile722insCys
XM_011515890.2:c.2135_2136insGTG	XP_011514192.1:p.Gly712_Ile713insCys
XM_011515891.3:c.2129_2130insGTG	XP_011514193.1:p.Gly710_Ile711insCys
XM_011515892.2:c.2126_2127insGTG	XP_011514194.1:p.Gly709_Ile710insCys
XM_011515893.2:c.2120_2121insGTG	XP_011514195.1:p.Gly707_Ile708insCys
XM_011515894.2:c.2111_2112insGTG	XP_011514196.1:p.Gly704_Ile705insCys
XM_011515895.2:c.2108_2109insGTG	XP_011514197.1:p.Gly703_Ile704insCys
XM_011515896.2:c.1994_1995insGTG	XP_011514198.1:p.Gly665_Ile666insCys
XM_011515897.2:c.1901_1902insGTG	XP_011514199.1:p.Gly634_Ile635insCys
XM_011515898.2:c.1901_1902insGTG	XP_011514200.1:p.Gly634_Ile635insCys
XM_017011817.2:c.2252_2253insGTG	XP_016867306.1:p.Gly751_Ile752insCys
XM_017011818.1:c.2189_2190insGTG	XP_016867307.1:p.Gly730_Ile731insCys
XM_017011819.1:c.2111_2112insGTG	XP_016867308.1:p.Gly704_Ile705insCys
XM_017011820.2:c.2084_2085insGTG	XP_016867309.1:p.Gly695_Ile696insCys
XM_017011821.1:c.1886_1887insGTG	XP_016867310.1:p.Gly629_Ile630insCys
XM_024446680.1:c.2114_2115insGTG	XP_024302448.1:p.Gly705_Ile706insCys
XR_001744581.1:n.4602_4603insGTG
XR_002956413.1:n.5258_5259insGTG
XR_002956414.1:n.5718_5719insGTG
NM_001203247.2:c.2213_2214insGTG	NP_001190176.1:p.Gly738_Ile739insCys
NM_001203248.2:c.2186_2187insGTG	NP_001190177.1:p.Gly729_Ile730insCys
NM_001203249.2:c.2060_2061insGTG	NP_001190178.1:p.Gly687_Ile688insCys
NM_004456.5:c.2228_2229insGTG MANE Select	NP_004447.2:p.Gly743_Ile744insCys
NM_152998.3:c.2096_2097insGTG	NP_694543.1:p.Gly699_Ile700insCys