Canonical Allele Identifier: CA458345663

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809100C>T , CM000669.2:g.148809100C>T	GRCh38
NC_000007.13:g.148506192C>T , CM000669.1:g.148506192C>T	GRCh37
NC_000007.12:g.148137125C>T	NCBI36
NG_032043.1:g.80250G>A , LRG_531:g.80250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4066G>A
ENST00000682317.1:c.*1228G>A	ENSP00000508286.1:n.*1228G>A
ENST00000683292.1:c.*1062G>A	ENSP00000507503.1:n.*1062G>A
ENST00000683293.1:n.3885G>A
ENST00000683744.1:c.*1228G>A	ENSP00000506949.1:n.*1228G>A
ENST00000684300.1:c.*1228G>A	ENSP00000508407.1:n.*1228G>A
ENST00000684400.1:n.4153G>A
ENST00000684436.1:n.2482G>A
ENST00000684510.1:n.2544G>A
ENST00000320356.7:c.2166G>A MANE Select	ENSP00000320147.2:p.Gln722=
ENST00000320356.6:c.2166G>A	ENSP00000320147.2:p.Gln722=
ENST00000350995.6:c.2034G>A	ENSP00000223193.2:p.Gln678=
ENST00000460911.5:c.2151G>A	ENSP00000419711.1:p.Gln717=
ENST00000476773.5:c.1998G>A	ENSP00000419050.1:p.Gln666=
ENST00000478654.5:c.1998G>A	ENSP00000417062.1:p.Gln666=
ENST00000483967.5:c.2124G>A	ENSP00000419856.1:p.Gln708=
ENST00000492143.5:c.*2156G>A	ENSP00000417377.1:n.*2156G>A
NM_001203247.1:c.2151G>A	NP_001190176.1:p.Gln717=
NM_001203248.1:c.2124G>A	NP_001190177.1:p.Gln708=
NM_001203249.1:c.1998G>A	NP_001190178.1:p.Gln666=
NM_004456.4:c.2166G>A , LRG_531t1:c.2166G>A	NP_004447.2:p.Gln722=
NM_152998.2:c.2034G>A	NP_694543.1:p.Gln678=
XM_005249962.3:c.2175G>A	XP_005250019.1:p.Gln725=
XM_005249963.3:c.2148G>A	XP_005250020.1:p.Gln716=
XM_005249964.3:c.2022G>A	XP_005250021.1:p.Gln674=
XM_011515883.1:c.2190G>A	XP_011514185.1:p.Gln730=
XM_011515884.1:c.2166G>A	XP_011514186.1:p.Gln722=
XM_011515885.1:c.2163G>A	XP_011514187.1:p.Gln721=
XM_011515886.1:c.2142G>A	XP_011514188.1:p.Gln714=
XM_011515887.1:c.2139G>A	XP_011514189.1:p.Gln713=
XM_011515888.1:c.2139G>A	XP_011514190.1:p.Gln713=
XM_011515889.1:c.2100G>A	XP_011514191.1:p.Gln700=
XM_011515890.1:c.2073G>A	XP_011514192.1:p.Gln691=
XM_011515891.1:c.2067G>A	XP_011514193.1:p.Gln689=
XM_011515892.1:c.2064G>A	XP_011514194.1:p.Gln688=
XM_011515893.1:c.2058G>A	XP_011514195.1:p.Gln686=
XM_011515894.1:c.2049G>A	XP_011514196.1:p.Gln683=
XM_011515895.1:c.2046G>A	XP_011514197.1:p.Gln682=
XM_011515896.1:c.1932G>A	XP_011514198.1:p.Gln644=
XM_011515897.1:c.1839G>A	XP_011514199.1:p.Gln613=
XM_011515898.1:c.1839G>A	XP_011514200.1:p.Gln613=
XR_928101.1:n.515+4015C>T
XR_928102.1:n.722+4015C>T
XM_005249962.4:c.2175G>A	XP_005250019.1:p.Gln725=
XM_005249963.4:c.2148G>A	XP_005250020.1:p.Gln716=
XM_005249964.4:c.2022G>A	XP_005250021.1:p.Gln674=
XM_011515883.2:c.2190G>A	XP_011514185.1:p.Gln730=
XM_011515884.2:c.2166G>A	XP_011514186.1:p.Gln722=
XM_011515885.2:c.2163G>A	XP_011514187.1:p.Gln721=
XM_011515886.2:c.2142G>A	XP_011514188.1:p.Gln714=
XM_011515887.3:c.2139G>A	XP_011514189.1:p.Gln713=
XM_011515888.2:c.2139G>A	XP_011514190.1:p.Gln713=
XM_011515889.2:c.2100G>A	XP_011514191.1:p.Gln700=
XM_011515890.2:c.2073G>A	XP_011514192.1:p.Gln691=
XM_011515891.3:c.2067G>A	XP_011514193.1:p.Gln689=
XM_011515892.2:c.2064G>A	XP_011514194.1:p.Gln688=
XM_011515893.2:c.2058G>A	XP_011514195.1:p.Gln686=
XM_011515894.2:c.2049G>A	XP_011514196.1:p.Gln683=
XM_011515895.2:c.2046G>A	XP_011514197.1:p.Gln682=
XM_011515896.2:c.1932G>A	XP_011514198.1:p.Gln644=
XM_011515897.2:c.1839G>A	XP_011514199.1:p.Gln613=
XM_011515898.2:c.1839G>A	XP_011514200.1:p.Gln613=
XM_017011817.2:c.2190G>A	XP_016867306.1:p.Gln730=
XM_017011818.1:c.2127G>A	XP_016867307.1:p.Gln709=
XM_017011819.1:c.2049G>A	XP_016867308.1:p.Gln683=
XM_017011820.2:c.2022G>A	XP_016867309.1:p.Gln674=
XM_017011821.1:c.1824G>A	XP_016867310.1:p.Gln608=
XM_024446680.1:c.2052G>A	XP_024302448.1:p.Gln684=
XR_001744581.1:n.4540G>A
XR_002956413.1:n.5196G>A
XR_002956414.1:n.5656G>A
NM_001203247.2:c.2151G>A	NP_001190176.1:p.Gln717=
NM_001203248.2:c.2124G>A	NP_001190177.1:p.Gln708=
NM_001203249.2:c.1998G>A	NP_001190178.1:p.Gln666=
NM_004456.5:c.2166G>A MANE Select	NP_004447.2:p.Gln722=
NM_152998.3:c.2034G>A	NP_694543.1:p.Gln678=