Canonical Allele Identifier: CA458345685

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809136A>G , CM000669.2:g.148809136A>G	GRCh38
NC_000007.13:g.148506228A>G , CM000669.1:g.148506228A>G	GRCh37
NC_000007.12:g.148137161A>G	NCBI36
NG_032043.1:g.80214T>C , LRG_531:g.80214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4030T>C
ENST00000682317.1:c.*1192T>C	ENSP00000508286.1:n.*1192T>C
ENST00000683292.1:c.*1026T>C	ENSP00000507503.1:n.*1026T>C
ENST00000683293.1:n.3849T>C
ENST00000683744.1:c.*1192T>C	ENSP00000506949.1:n.*1192T>C
ENST00000684300.1:c.*1192T>C	ENSP00000508407.1:n.*1192T>C
ENST00000684400.1:n.4117T>C
ENST00000684436.1:n.2446T>C
ENST00000684510.1:n.2508T>C
ENST00000320356.7:c.2130T>C MANE Select	ENSP00000320147.2:p.Asp710=
ENST00000320356.6:c.2130T>C	ENSP00000320147.2:p.Asp710=
ENST00000350995.6:c.1998T>C	ENSP00000223193.2:p.Asp666=
ENST00000460911.5:c.2115T>C	ENSP00000419711.1:p.Asp705=
ENST00000476773.5:c.1962T>C	ENSP00000419050.1:p.Asp654=
ENST00000478654.5:c.1962T>C	ENSP00000417062.1:p.Asp654=
ENST00000483967.5:c.2088T>C	ENSP00000419856.1:p.Asp696=
ENST00000492143.5:c.*2120T>C	ENSP00000417377.1:n.*2120T>C
NM_001203247.1:c.2115T>C	NP_001190176.1:p.Asp705=
NM_001203248.1:c.2088T>C	NP_001190177.1:p.Asp696=
NM_001203249.1:c.1962T>C	NP_001190178.1:p.Asp654=
NM_004456.4:c.2130T>C , LRG_531t1:c.2130T>C	NP_004447.2:p.Asp710=
NM_152998.2:c.1998T>C	NP_694543.1:p.Asp666=
XM_005249962.3:c.2139T>C	XP_005250019.1:p.Asp713=
XM_005249963.3:c.2112T>C	XP_005250020.1:p.Asp704=
XM_005249964.3:c.1986T>C	XP_005250021.1:p.Asp662=
XM_011515883.1:c.2154T>C	XP_011514185.1:p.Asp718=
XM_011515884.1:c.2130T>C	XP_011514186.1:p.Asp710=
XM_011515885.1:c.2127T>C	XP_011514187.1:p.Asp709=
XM_011515886.1:c.2106T>C	XP_011514188.1:p.Asp702=
XM_011515887.1:c.2103T>C	XP_011514189.1:p.Asp701=
XM_011515888.1:c.2103T>C	XP_011514190.1:p.Asp701=
XM_011515889.1:c.2064T>C	XP_011514191.1:p.Asp688=
XM_011515890.1:c.2037T>C	XP_011514192.1:p.Asp679=
XM_011515891.1:c.2031T>C	XP_011514193.1:p.Asp677=
XM_011515892.1:c.2028T>C	XP_011514194.1:p.Asp676=
XM_011515893.1:c.2022T>C	XP_011514195.1:p.Asp674=
XM_011515894.1:c.2013T>C	XP_011514196.1:p.Asp671=
XM_011515895.1:c.2010T>C	XP_011514197.1:p.Asp670=
XM_011515896.1:c.1896T>C	XP_011514198.1:p.Asp632=
XM_011515897.1:c.1803T>C	XP_011514199.1:p.Asp601=
XM_011515898.1:c.1803T>C	XP_011514200.1:p.Asp601=
XR_928101.1:n.515+4051A>G
XR_928102.1:n.722+4051A>G
XM_005249962.4:c.2139T>C	XP_005250019.1:p.Asp713=
XM_005249963.4:c.2112T>C	XP_005250020.1:p.Asp704=
XM_005249964.4:c.1986T>C	XP_005250021.1:p.Asp662=
XM_011515883.2:c.2154T>C	XP_011514185.1:p.Asp718=
XM_011515884.2:c.2130T>C	XP_011514186.1:p.Asp710=
XM_011515885.2:c.2127T>C	XP_011514187.1:p.Asp709=
XM_011515886.2:c.2106T>C	XP_011514188.1:p.Asp702=
XM_011515887.3:c.2103T>C	XP_011514189.1:p.Asp701=
XM_011515888.2:c.2103T>C	XP_011514190.1:p.Asp701=
XM_011515889.2:c.2064T>C	XP_011514191.1:p.Asp688=
XM_011515890.2:c.2037T>C	XP_011514192.1:p.Asp679=
XM_011515891.3:c.2031T>C	XP_011514193.1:p.Asp677=
XM_011515892.2:c.2028T>C	XP_011514194.1:p.Asp676=
XM_011515893.2:c.2022T>C	XP_011514195.1:p.Asp674=
XM_011515894.2:c.2013T>C	XP_011514196.1:p.Asp671=
XM_011515895.2:c.2010T>C	XP_011514197.1:p.Asp670=
XM_011515896.2:c.1896T>C	XP_011514198.1:p.Asp632=
XM_011515897.2:c.1803T>C	XP_011514199.1:p.Asp601=
XM_011515898.2:c.1803T>C	XP_011514200.1:p.Asp601=
XM_017011817.2:c.2154T>C	XP_016867306.1:p.Asp718=
XM_017011818.1:c.2091T>C	XP_016867307.1:p.Asp697=
XM_017011819.1:c.2013T>C	XP_016867308.1:p.Asp671=
XM_017011820.2:c.1986T>C	XP_016867309.1:p.Asp662=
XM_017011821.1:c.1788T>C	XP_016867310.1:p.Asp596=
XM_024446680.1:c.2016T>C	XP_024302448.1:p.Asp672=
XR_001744581.1:n.4504T>C
XR_002956413.1:n.5160T>C
XR_002956414.1:n.5620T>C
NM_001203247.2:c.2115T>C	NP_001190176.1:p.Asp705=
NM_001203248.2:c.2088T>C	NP_001190177.1:p.Asp696=
NM_001203249.2:c.1962T>C	NP_001190178.1:p.Asp654=
NM_004456.5:c.2130T>C MANE Select	NP_004447.2:p.Asp710=
NM_152998.3:c.1998T>C	NP_694543.1:p.Asp666=