Canonical Allele Identifier: CA458345616

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504753T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807661T>C , CM000669.2:g.148807661T>C	GRCh38
NC_000007.13:g.148504753T>C , CM000669.1:g.148504753T>C	GRCh37
NC_000007.12:g.148135686T>C	NCBI36
NG_032043.1:g.81689A>G , LRG_531:g.81689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4141A>G
ENST00000682317.1:c.*1303A>G	ENSP00000508286.1:n.*1303A>G
ENST00000683292.1:c.*1137A>G	ENSP00000507503.1:n.*1137A>G
ENST00000683293.1:n.3960A>G
ENST00000683744.1:c.*1303A>G	ENSP00000506949.1:n.*1303A>G
ENST00000684300.1:c.*1303A>G	ENSP00000508407.1:n.*1303A>G
ENST00000684400.1:n.4228A>G
ENST00000684436.1:n.2557A>G
ENST00000684510.1:n.2619A>G
ENST00000320356.7:c.2241A>G MANE Select	ENSP00000320147.2:p.Glu747=
ENST00000320356.6:c.2241A>G	ENSP00000320147.2:p.Glu747=
ENST00000350995.6:c.2109A>G	ENSP00000223193.2:p.Glu703=
ENST00000460911.5:c.2226A>G	ENSP00000419711.1:p.Glu742=
ENST00000476773.5:c.2073A>G	ENSP00000419050.1:p.Glu691=
ENST00000478654.5:c.2073A>G	ENSP00000417062.1:p.Glu691=
ENST00000483967.5:c.2199A>G	ENSP00000419856.1:p.Glu733=
ENST00000492143.5:c.*2231A>G	ENSP00000417377.1:n.*2231A>G
NM_001203247.1:c.2226A>G	NP_001190176.1:p.Glu742=
NM_001203248.1:c.2199A>G	NP_001190177.1:p.Glu733=
NM_001203249.1:c.2073A>G	NP_001190178.1:p.Glu691=
NM_004456.4:c.2241A>G , LRG_531t1:c.2241A>G	NP_004447.2:p.Glu747=
NM_152998.2:c.2109A>G	NP_694543.1:p.Glu703=
XM_005249962.3:c.2250A>G	XP_005250019.1:p.Glu750=
XM_005249963.3:c.2223A>G	XP_005250020.1:p.Glu741=
XM_005249964.3:c.2097A>G	XP_005250021.1:p.Glu699=
XM_011515883.1:c.2265A>G	XP_011514185.1:p.Glu755=
XM_011515884.1:c.2241A>G	XP_011514186.1:p.Glu747=
XM_011515885.1:c.2238A>G	XP_011514187.1:p.Glu746=
XM_011515886.1:c.2217A>G	XP_011514188.1:p.Glu739=
XM_011515887.1:c.2214A>G	XP_011514189.1:p.Glu738=
XM_011515888.1:c.2214A>G	XP_011514190.1:p.Glu738=
XM_011515889.1:c.2175A>G	XP_011514191.1:p.Glu725=
XM_011515890.1:c.2148A>G	XP_011514192.1:p.Glu716=
XM_011515891.1:c.2142A>G	XP_011514193.1:p.Glu714=
XM_011515892.1:c.2139A>G	XP_011514194.1:p.Glu713=
XM_011515893.1:c.2133A>G	XP_011514195.1:p.Glu711=
XM_011515894.1:c.2124A>G	XP_011514196.1:p.Glu708=
XM_011515895.1:c.2121A>G	XP_011514197.1:p.Glu707=
XM_011515896.1:c.2007A>G	XP_011514198.1:p.Glu669=
XM_011515897.1:c.1914A>G	XP_011514199.1:p.Glu638=
XM_011515898.1:c.1914A>G	XP_011514200.1:p.Glu638=
XR_928101.1:n.515+2576T>C
XR_928102.1:n.722+2576T>C
XM_005249962.4:c.2250A>G	XP_005250019.1:p.Glu750=
XM_005249963.4:c.2223A>G	XP_005250020.1:p.Glu741=
XM_005249964.4:c.2097A>G	XP_005250021.1:p.Glu699=
XM_011515883.2:c.2265A>G	XP_011514185.1:p.Glu755=
XM_011515884.2:c.2241A>G	XP_011514186.1:p.Glu747=
XM_011515885.2:c.2238A>G	XP_011514187.1:p.Glu746=
XM_011515886.2:c.2217A>G	XP_011514188.1:p.Glu739=
XM_011515887.3:c.2214A>G	XP_011514189.1:p.Glu738=
XM_011515888.2:c.2214A>G	XP_011514190.1:p.Glu738=
XM_011515889.2:c.2175A>G	XP_011514191.1:p.Glu725=
XM_011515890.2:c.2148A>G	XP_011514192.1:p.Glu716=
XM_011515891.3:c.2142A>G	XP_011514193.1:p.Glu714=
XM_011515892.2:c.2139A>G	XP_011514194.1:p.Glu713=
XM_011515893.2:c.2133A>G	XP_011514195.1:p.Glu711=
XM_011515894.2:c.2124A>G	XP_011514196.1:p.Glu708=
XM_011515895.2:c.2121A>G	XP_011514197.1:p.Glu707=
XM_011515896.2:c.2007A>G	XP_011514198.1:p.Glu669=
XM_011515897.2:c.1914A>G	XP_011514199.1:p.Glu638=
XM_011515898.2:c.1914A>G	XP_011514200.1:p.Glu638=
XM_017011817.2:c.2265A>G	XP_016867306.1:p.Glu755=
XM_017011818.1:c.2202A>G	XP_016867307.1:p.Glu734=
XM_017011819.1:c.2124A>G	XP_016867308.1:p.Glu708=
XM_017011820.2:c.2097A>G	XP_016867309.1:p.Glu699=
XM_017011821.1:c.1899A>G	XP_016867310.1:p.Glu633=
XM_024446680.1:c.2127A>G	XP_024302448.1:p.Glu709=
XR_001744581.1:n.4615A>G
XR_002956413.1:n.5271A>G
XR_002956414.1:n.5731A>G
NM_001203247.2:c.2226A>G	NP_001190176.1:p.Glu742=
NM_001203248.2:c.2199A>G	NP_001190177.1:p.Glu733=
NM_001203249.2:c.2073A>G	NP_001190178.1:p.Glu691=
NM_004456.5:c.2241A>G MANE Select	NP_004447.2:p.Glu747=
NM_152998.3:c.2109A>G	NP_694543.1:p.Glu703=