Canonical Allele Identifier: CA2573331918

Gene: EZH2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809084del , CM000669.2:g.148809084del	GRCh38
NC_000007.13:g.148506176del , CM000669.1:g.148506176del	GRCh37
NC_000007.12:g.148137109del	NCBI36
NG_032043.1:g.80271del , LRG_531:g.80271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4087del
ENST00000682317.1:c.*1249del	ENSP00000508286.1:n.*1249del
ENST00000683292.1:c.*1083del	ENSP00000507503.1:n.*1083del
ENST00000683293.1:n.3906del
ENST00000683744.1:c.*1249del	ENSP00000506949.1:n.*1249del
ENST00000684300.1:c.*1249del	ENSP00000508407.1:n.*1249del
ENST00000684400.1:n.4174del
ENST00000684436.1:n.2503del
ENST00000684510.1:n.2565del
ENST00000320356.7:c.2187del MANE Select	ENSP00000320147.2:p.Phe729LeufsTer11
ENST00000320356.6:c.2187del	ENSP00000320147.2:p.Phe729LeufsTer11
ENST00000350995.6:c.2055del	ENSP00000223193.2:p.Phe685LeufsTer11
ENST00000460911.5:c.2172del	ENSP00000419711.1:p.Phe724LeufsTer11
ENST00000476773.5:c.2019del	ENSP00000419050.1:p.Phe673LeufsTer11
ENST00000478654.5:c.2019del	ENSP00000417062.1:p.Phe673LeufsTer11
ENST00000483967.5:c.2145del	ENSP00000419856.1:p.Phe715LeufsTer11
ENST00000492143.5:c.*2177del	ENSP00000417377.1:n.*2177del
NM_001203247.1:c.2172del	NP_001190176.1:p.Phe724LeufsTer11
NM_001203248.1:c.2145del	NP_001190177.1:p.Phe715LeufsTer11
NM_001203249.1:c.2019del	NP_001190178.1:p.Phe673LeufsTer11
NM_004456.4:c.2187del , LRG_531t1:c.2187del	NP_004447.2:p.Phe729LeufsTer11
NM_152998.2:c.2055del	NP_694543.1:p.Phe685LeufsTer11
XM_005249962.3:c.2196del	XP_005250019.1:p.Phe732LeufsTer11
XM_005249963.3:c.2169del	XP_005250020.1:p.Phe723LeufsTer11
XM_005249964.3:c.2043del	XP_005250021.1:p.Phe681LeufsTer11
XM_011515883.1:c.2211del	XP_011514185.1:p.Phe737LeufsTer11
XM_011515884.1:c.2187del	XP_011514186.1:p.Phe729LeufsTer11
XM_011515885.1:c.2184del	XP_011514187.1:p.Phe728LeufsTer11
XM_011515886.1:c.2163del	XP_011514188.1:p.Phe721LeufsTer11
XM_011515887.1:c.2160del	XP_011514189.1:p.Phe720LeufsTer11
XM_011515888.1:c.2160del	XP_011514190.1:p.Phe720LeufsTer11
XM_011515889.1:c.2121del	XP_011514191.1:p.Phe707LeufsTer11
XM_011515890.1:c.2094del	XP_011514192.1:p.Phe698LeufsTer11
XM_011515891.1:c.2088del	XP_011514193.1:p.Phe696LeufsTer11
XM_011515892.1:c.2085del	XP_011514194.1:p.Phe695LeufsTer11
XM_011515893.1:c.2079del	XP_011514195.1:p.Phe693LeufsTer11
XM_011515894.1:c.2070del	XP_011514196.1:p.Phe690LeufsTer11
XM_011515895.1:c.2067del	XP_011514197.1:p.Phe689LeufsTer11
XM_011515896.1:c.1953del	XP_011514198.1:p.Phe651LeufsTer11
XM_011515897.1:c.1860del	XP_011514199.1:p.Phe620LeufsTer11
XM_011515898.1:c.1860del	XP_011514200.1:p.Phe620LeufsTer11
XR_928101.1:n.515+3999del
XR_928102.1:n.722+3999del
XM_005249962.4:c.2196del	XP_005250019.1:p.Phe732LeufsTer11
XM_005249963.4:c.2169del	XP_005250020.1:p.Phe723LeufsTer11
XM_005249964.4:c.2043del	XP_005250021.1:p.Phe681LeufsTer11
XM_011515883.2:c.2211del	XP_011514185.1:p.Phe737LeufsTer11
XM_011515884.2:c.2187del	XP_011514186.1:p.Phe729LeufsTer11
XM_011515885.2:c.2184del	XP_011514187.1:p.Phe728LeufsTer11
XM_011515886.2:c.2163del	XP_011514188.1:p.Phe721LeufsTer11
XM_011515887.3:c.2160del	XP_011514189.1:p.Phe720LeufsTer11
XM_011515888.2:c.2160del	XP_011514190.1:p.Phe720LeufsTer11
XM_011515889.2:c.2121del	XP_011514191.1:p.Phe707LeufsTer11
XM_011515890.2:c.2094del	XP_011514192.1:p.Phe698LeufsTer11
XM_011515891.3:c.2088del	XP_011514193.1:p.Phe696LeufsTer11
XM_011515892.2:c.2085del	XP_011514194.1:p.Phe695LeufsTer11
XM_011515893.2:c.2079del	XP_011514195.1:p.Phe693LeufsTer11
XM_011515894.2:c.2070del	XP_011514196.1:p.Phe690LeufsTer11
XM_011515895.2:c.2067del	XP_011514197.1:p.Phe689LeufsTer11
XM_011515896.2:c.1953del	XP_011514198.1:p.Phe651LeufsTer11
XM_011515897.2:c.1860del	XP_011514199.1:p.Phe620LeufsTer11
XM_011515898.2:c.1860del	XP_011514200.1:p.Phe620LeufsTer11
XM_017011817.2:c.2211del	XP_016867306.1:p.Phe737LeufsTer11
XM_017011818.1:c.2148del	XP_016867307.1:p.Phe716LeufsTer11
XM_017011819.1:c.2070del	XP_016867308.1:p.Phe690LeufsTer11
XM_017011820.2:c.2043del	XP_016867309.1:p.Phe681LeufsTer11
XM_017011821.1:c.1845del	XP_016867310.1:p.Phe615LeufsTer11
XM_024446680.1:c.2073del	XP_024302448.1:p.Phe691LeufsTer11
XR_001744581.1:n.4561del
XR_002956413.1:n.5217del
XR_002956414.1:n.5677del
NM_001203247.2:c.2172del	NP_001190176.1:p.Phe724LeufsTer11
NM_001203248.2:c.2145del	NP_001190177.1:p.Phe715LeufsTer11
NM_001203249.2:c.2019del	NP_001190178.1:p.Phe673LeufsTer11
NM_004456.5:c.2187del MANE Select	NP_004447.2:p.Phe729LeufsTer11
NM_152998.3:c.2055del	NP_694543.1:p.Phe685LeufsTer11