Canonical Allele Identifier: CA1751421440
Community Standard Title: NM_004456.5(EZH2):c.2080C= (p.His694=)
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148809340G= , CM000669.2:g.148809340G= GRCh38
NC_000007.13:g.148506432G= , CM000669.1:g.148506432G= GRCh37
NC_000007.12:g.148137365G= NCBI36
NG_032043.1:g.80010C= , LRG_531:g.80010C=

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.2080C= MANE Select NP_004447.2:p.His694=
ENST00000320356.7:c.2080C= MANE Select ENSP00000320147.2:p.His694=
NM_001203247.1:c.2065C= NP_001190176.1:p.His689=
NM_001203247.2:c.2065C= NP_001190176.1:p.His689=
NM_001203248.1:c.2038C= NP_001190177.1:p.His680=
NM_001203248.2:c.2038C= NP_001190177.1:p.His680=
NM_001203249.1:c.1912C= NP_001190178.1:p.His638=
NM_001203249.2:c.1912C= NP_001190178.1:p.His638=
NM_004456.4:c.2080C= , LRG_531t1:c.2080C= NP_004447.2:p.His694=
NM_152998.2:c.1948C= NP_694543.1:p.His650=
NM_152998.3:c.1948C= NP_694543.1:p.His650=
ENST00000320356.6:c.2080C= ENSP00000320147.2:p.His694=
ENST00000350995.6:c.1948C= ENSP00000223193.2:p.His650=
ENST00000460911.5:c.2065C= ENSP00000419711.1:p.His689=
ENST00000476773.5:c.1912C= ENSP00000419050.1:p.His638=
ENST00000478654.5:c.1912C= ENSP00000417062.1:p.His638=
ENST00000483967.5:c.2038C= ENSP00000419856.1:p.His680=
ENST00000492143.5:c.*2070C= ENSP00000417377.1:n.*2070C=
ENST00000682263.1:n.3980C=
ENST00000682317.1:c.*1142C= ENSP00000508286.1:n.*1142C=
ENST00000683292.1:c.*976C= ENSP00000507503.1:n.*976C=
ENST00000683293.1:n.3799C=
ENST00000683744.1:c.*1142C= ENSP00000506949.1:n.*1142C=
ENST00000684300.1:c.*1142C= ENSP00000508407.1:n.*1142C=
ENST00000684400.1:n.3913C=
ENST00000684436.1:n.2396C=
ENST00000684510.1:n.2458C=
XM_005249962.3:c.2089C= XP_005250019.1:p.His697=
XM_005249962.4:c.2089C= XP_005250019.1:p.His697=
XM_005249963.3:c.2062C= XP_005250020.1:p.His688=
XM_005249963.4:c.2062C= XP_005250020.1:p.His688=
XM_005249964.3:c.1936C= XP_005250021.1:p.His646=
XM_005249964.4:c.1936C= XP_005250021.1:p.His646=
XM_011515883.1:c.2104C= XP_011514185.1:p.His702=
XM_011515883.2:c.2104C= XP_011514185.1:p.His702=
XM_011515884.1:c.2080C= XP_011514186.1:p.His694=
XM_011515884.2:c.2080C= XP_011514186.1:p.His694=
XM_011515885.1:c.2077C= XP_011514187.1:p.His693=
XM_011515885.2:c.2077C= XP_011514187.1:p.His693=
XM_011515886.1:c.2056C= XP_011514188.1:p.His686=
XM_011515886.2:c.2056C= XP_011514188.1:p.His686=
XM_011515887.1:c.2053C= XP_011514189.1:p.His685=
XM_011515887.3:c.2053C= XP_011514189.1:p.His685=
XM_011515888.1:c.2053C= XP_011514190.1:p.His685=
XM_011515888.2:c.2053C= XP_011514190.1:p.His685=
XM_011515889.1:c.2014C= XP_011514191.1:p.His672=
XM_011515889.2:c.2014C= XP_011514191.1:p.His672=
XM_011515890.1:c.1987C= XP_011514192.1:p.His663=
XM_011515890.2:c.1987C= XP_011514192.1:p.His663=
XM_011515891.1:c.1981C= XP_011514193.1:p.His661=
XM_011515891.3:c.1981C= XP_011514193.1:p.His661=
XM_011515892.1:c.1978C= XP_011514194.1:p.His660=
XM_011515892.2:c.1978C= XP_011514194.1:p.His660=
XM_011515893.1:c.1972C= XP_011514195.1:p.His658=
XM_011515893.2:c.1972C= XP_011514195.1:p.His658=
XM_011515894.1:c.1963C= XP_011514196.1:p.His655=
XM_011515894.2:c.1963C= XP_011514196.1:p.His655=
XM_011515895.1:c.1960C= XP_011514197.1:p.His654=
XM_011515895.2:c.1960C= XP_011514197.1:p.His654=
XM_011515896.1:c.1846C= XP_011514198.1:p.His616=
XM_011515896.2:c.1846C= XP_011514198.1:p.His616=
XM_011515897.1:c.1753C= XP_011514199.1:p.His585=
XM_011515897.2:c.1753C= XP_011514199.1:p.His585=
XM_011515898.1:c.1753C= XP_011514200.1:p.His585=
XM_011515898.2:c.1753C= XP_011514200.1:p.His585=
XM_017011817.2:c.2104C= XP_016867306.1:p.His702=
XM_017011818.1:c.2041C= XP_016867307.1:p.His681=
XM_017011819.1:c.1963C= XP_016867308.1:p.His655=
XM_017011820.2:c.1936C= XP_016867309.1:p.His646=
XM_017011821.1:c.1738C= XP_016867310.1:p.His580=
XM_024446680.1:c.1966C= XP_024302448.1:p.His656=
XR_001744581.1:n.4454C=
XR_002956413.1:n.5110C=
XR_002956414.1:n.5570C=
XR_928101.1:n.515+4255G=
XR_928102.1:n.722+4255G=