Canonical Allele Identifier: CA1751424162
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148811696C= , CM000669.2:g.148811696C= GRCh38
NC_000007.13:g.148508788C= , CM000669.1:g.148508788C= GRCh37
NC_000007.12:g.148139721C= NCBI36
NG_032043.1:g.77654G= , LRG_531:g.77654G=

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.1876G= MANE Select NP_004447.2:p.Val626=
ENST00000320356.7:c.1876G= MANE Select ENSP00000320147.2:p.Val626=
NM_001203247.1:c.1861G= NP_001190176.1:p.Val621=
NM_001203247.2:c.1861G= NP_001190176.1:p.Val621=
NM_001203248.1:c.1834G= NP_001190177.1:p.Val612=
NM_001203248.2:c.1834G= NP_001190177.1:p.Val612=
NM_001203249.1:c.1708G= NP_001190178.1:p.Val570=
NM_001203249.2:c.1708G= NP_001190178.1:p.Val570=
NM_004456.4:c.1876G= , LRG_531t1:c.1876G= NP_004447.2:p.Val626=
NM_152998.2:c.1744G= NP_694543.1:p.Val582=
NM_152998.3:c.1744G= NP_694543.1:p.Val582=
ENST00000320356.6:c.1876G= ENSP00000320147.2:p.Val626=
ENST00000350995.6:c.1744G= ENSP00000223193.2:p.Val582=
ENST00000460911.5:c.1861G= ENSP00000419711.1:p.Val621=
ENST00000469631.1:n.128G=
ENST00000476773.5:c.1708G= ENSP00000419050.1:p.Val570=
ENST00000478654.5:c.1708G= ENSP00000417062.1:p.Val570=
ENST00000483967.5:c.1834G= ENSP00000419856.1:p.Val612=
ENST00000492143.5:c.*1866G= ENSP00000417377.1:n.*1866G=
ENST00000682263.1:n.3776G=
ENST00000682317.1:c.*938G= ENSP00000508286.1:n.*938G=
ENST00000683292.1:c.*772G= ENSP00000507503.1:n.*772G=
ENST00000683293.1:n.3595G=
ENST00000683744.1:c.*938G= ENSP00000506949.1:n.*938G=
ENST00000684300.1:c.*938G= ENSP00000508407.1:n.*938G=
ENST00000684400.1:n.2767G=
ENST00000684436.1:n.2192G=
ENST00000684510.1:n.2254G=
XM_005249962.3:c.1885G= XP_005250019.1:p.Val629=
XM_005249962.4:c.1885G= XP_005250019.1:p.Val629=
XM_005249963.3:c.1858G= XP_005250020.1:p.Val620=
XM_005249963.4:c.1858G= XP_005250020.1:p.Val620=
XM_005249964.3:c.1732G= XP_005250021.1:p.Val578=
XM_005249964.4:c.1732G= XP_005250021.1:p.Val578=
XM_011515883.1:c.1900G= XP_011514185.1:p.Val634=
XM_011515883.2:c.1900G= XP_011514185.1:p.Val634=
XM_011515884.1:c.1876G= XP_011514186.1:p.Val626=
XM_011515884.2:c.1876G= XP_011514186.1:p.Val626=
XM_011515885.1:c.1873G= XP_011514187.1:p.Val625=
XM_011515885.2:c.1873G= XP_011514187.1:p.Val625=
XM_011515886.1:c.1852G= XP_011514188.1:p.Val618=
XM_011515886.2:c.1852G= XP_011514188.1:p.Val618=
XM_011515887.1:c.1849G= XP_011514189.1:p.Val617=
XM_011515887.3:c.1849G= XP_011514189.1:p.Val617=
XM_011515888.1:c.1849G= XP_011514190.1:p.Val617=
XM_011515888.2:c.1849G= XP_011514190.1:p.Val617=
XM_011515889.1:c.1810G= XP_011514191.1:p.Val604=
XM_011515889.2:c.1810G= XP_011514191.1:p.Val604=
XM_011515890.1:c.1783G= XP_011514192.1:p.Val595=
XM_011515890.2:c.1783G= XP_011514192.1:p.Val595=
XM_011515891.1:c.1777G= XP_011514193.1:p.Val593=
XM_011515891.3:c.1777G= XP_011514193.1:p.Val593=
XM_011515892.1:c.1774G= XP_011514194.1:p.Val592=
XM_011515892.2:c.1774G= XP_011514194.1:p.Val592=
XM_011515893.1:c.1768G= XP_011514195.1:p.Val590=
XM_011515893.2:c.1768G= XP_011514195.1:p.Val590=
XM_011515894.1:c.1759G= XP_011514196.1:p.Val587=
XM_011515894.2:c.1759G= XP_011514196.1:p.Val587=
XM_011515895.1:c.1756G= XP_011514197.1:p.Val586=
XM_011515895.2:c.1756G= XP_011514197.1:p.Val586=
XM_011515896.1:c.1642G= XP_011514198.1:p.Val548=
XM_011515896.2:c.1642G= XP_011514198.1:p.Val548=
XM_011515897.1:c.1549G= XP_011514199.1:p.Val517=
XM_011515897.2:c.1549G= XP_011514199.1:p.Val517=
XM_011515898.1:c.1549G= XP_011514200.1:p.Val517=
XM_011515898.2:c.1549G= XP_011514200.1:p.Val517=
XM_017011817.2:c.1900G= XP_016867306.1:p.Val634=
XM_017011818.1:c.1837G= XP_016867307.1:p.Val613=
XM_017011819.1:c.1759G= XP_016867308.1:p.Val587=
XM_017011820.2:c.1732G= XP_016867309.1:p.Val578=
XM_017011821.1:c.1534G= XP_016867310.1:p.Val512=
XM_024446680.1:c.1762G= XP_024302448.1:p.Val588=
XR_001744581.1:n.4250G=
XR_002956413.1:n.4906G=
XR_002956414.1:n.5366G=
XR_928101.1:n.515+6611C=
XR_928102.1:n.722+6611C=