Canonical Allele Identifier: CA1751421484
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148809375G= , CM000669.2:g.148809375G= GRCh38
NC_000007.13:g.148506467G= , CM000669.1:g.148506467G= GRCh37
NC_000007.12:g.148137400G= NCBI36
NG_032043.1:g.79975C= , LRG_531:g.79975C=

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.2045C= MANE Select NP_004447.2:p.Ala682=
ENST00000320356.7:c.2045C= MANE Select ENSP00000320147.2:p.Ala682=
NM_001203247.1:c.2030C= NP_001190176.1:p.Ala677=
NM_001203247.2:c.2030C= NP_001190176.1:p.Ala677=
NM_001203248.1:c.2003C= NP_001190177.1:p.Ala668=
NM_001203248.2:c.2003C= NP_001190177.1:p.Ala668=
NM_001203249.1:c.1877C= NP_001190178.1:p.Ala626=
NM_001203249.2:c.1877C= NP_001190178.1:p.Ala626=
NM_004456.4:c.2045C= , LRG_531t1:c.2045C= NP_004447.2:p.Ala682=
NM_152998.2:c.1913C= NP_694543.1:p.Ala638=
NM_152998.3:c.1913C= NP_694543.1:p.Ala638=
ENST00000320356.6:c.2045C= ENSP00000320147.2:p.Ala682=
ENST00000350995.6:c.1913C= ENSP00000223193.2:p.Ala638=
ENST00000460911.5:c.2030C= ENSP00000419711.1:p.Ala677=
ENST00000476773.5:c.1877C= ENSP00000419050.1:p.Ala626=
ENST00000478654.5:c.1877C= ENSP00000417062.1:p.Ala626=
ENST00000483967.5:c.2003C= ENSP00000419856.1:p.Ala668=
ENST00000492143.5:c.*2035C= ENSP00000417377.1:n.*2035C=
ENST00000682263.1:n.3945C=
ENST00000682317.1:c.*1107C= ENSP00000508286.1:n.*1107C=
ENST00000683292.1:c.*941C= ENSP00000507503.1:n.*941C=
ENST00000683293.1:n.3764C=
ENST00000683744.1:c.*1107C= ENSP00000506949.1:n.*1107C=
ENST00000684300.1:c.*1107C= ENSP00000508407.1:n.*1107C=
ENST00000684400.1:n.3878C=
ENST00000684436.1:n.2361C=
ENST00000684510.1:n.2423C=
XM_005249962.3:c.2054C= XP_005250019.1:p.Ala685=
XM_005249962.4:c.2054C= XP_005250019.1:p.Ala685=
XM_005249963.3:c.2027C= XP_005250020.1:p.Ala676=
XM_005249963.4:c.2027C= XP_005250020.1:p.Ala676=
XM_005249964.3:c.1901C= XP_005250021.1:p.Ala634=
XM_005249964.4:c.1901C= XP_005250021.1:p.Ala634=
XM_011515883.1:c.2069C= XP_011514185.1:p.Ala690=
XM_011515883.2:c.2069C= XP_011514185.1:p.Ala690=
XM_011515884.1:c.2045C= XP_011514186.1:p.Ala682=
XM_011515884.2:c.2045C= XP_011514186.1:p.Ala682=
XM_011515885.1:c.2042C= XP_011514187.1:p.Ala681=
XM_011515885.2:c.2042C= XP_011514187.1:p.Ala681=
XM_011515886.1:c.2021C= XP_011514188.1:p.Ala674=
XM_011515886.2:c.2021C= XP_011514188.1:p.Ala674=
XM_011515887.1:c.2018C= XP_011514189.1:p.Ala673=
XM_011515887.3:c.2018C= XP_011514189.1:p.Ala673=
XM_011515888.1:c.2018C= XP_011514190.1:p.Ala673=
XM_011515888.2:c.2018C= XP_011514190.1:p.Ala673=
XM_011515889.1:c.1979C= XP_011514191.1:p.Ala660=
XM_011515889.2:c.1979C= XP_011514191.1:p.Ala660=
XM_011515890.1:c.1952C= XP_011514192.1:p.Ala651=
XM_011515890.2:c.1952C= XP_011514192.1:p.Ala651=
XM_011515891.1:c.1946C= XP_011514193.1:p.Ala649=
XM_011515891.3:c.1946C= XP_011514193.1:p.Ala649=
XM_011515892.1:c.1943C= XP_011514194.1:p.Ala648=
XM_011515892.2:c.1943C= XP_011514194.1:p.Ala648=
XM_011515893.1:c.1937C= XP_011514195.1:p.Ala646=
XM_011515893.2:c.1937C= XP_011514195.1:p.Ala646=
XM_011515894.1:c.1928C= XP_011514196.1:p.Ala643=
XM_011515894.2:c.1928C= XP_011514196.1:p.Ala643=
XM_011515895.1:c.1925C= XP_011514197.1:p.Ala642=
XM_011515895.2:c.1925C= XP_011514197.1:p.Ala642=
XM_011515896.1:c.1811C= XP_011514198.1:p.Ala604=
XM_011515896.2:c.1811C= XP_011514198.1:p.Ala604=
XM_011515897.1:c.1718C= XP_011514199.1:p.Ala573=
XM_011515897.2:c.1718C= XP_011514199.1:p.Ala573=
XM_011515898.1:c.1718C= XP_011514200.1:p.Ala573=
XM_011515898.2:c.1718C= XP_011514200.1:p.Ala573=
XM_017011817.2:c.2069C= XP_016867306.1:p.Ala690=
XM_017011818.1:c.2006C= XP_016867307.1:p.Ala669=
XM_017011819.1:c.1928C= XP_016867308.1:p.Ala643=
XM_017011820.2:c.1901C= XP_016867309.1:p.Ala634=
XM_017011821.1:c.1703C= XP_016867310.1:p.Ala568=
XM_024446680.1:c.1931C= XP_024302448.1:p.Ala644=
XR_001744581.1:n.4419C=
XR_002956413.1:n.5075C=
XR_002956414.1:n.5535C=
XR_928101.1:n.515+4290G=
XR_928102.1:n.722+4290G=