Canonical Allele Identifier: CA2579086444
Community Standard Title: NM_004456.5(EZH2):c.1851+11A>G
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148813948T>C , CM000669.2:g.148813948T>C GRCh38
NC_000007.13:g.148511040T>C , CM000669.1:g.148511040T>C GRCh37
NC_000007.12:g.148141973T>C NCBI36
NG_032043.1:g.75402A>G , LRG_531:g.75402A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.1851+11A>G MANE Select NP_004447.2:n.1851+11A>G
ENST00000320356.7:c.1851+11A>G MANE Select ENSP00000320147.2:n.1851+11A>G
NM_001203247.1:c.1836+11A>G NP_001190176.1:n.1836+11A>G
NM_001203247.2:c.1836+11A>G NP_001190176.1:n.1836+11A>G
NM_001203248.1:c.1809+11A>G NP_001190177.1:n.1809+11A>G
NM_001203248.2:c.1809+11A>G NP_001190177.1:n.1809+11A>G
NM_001203249.1:c.1683+11A>G NP_001190178.1:n.1683+11A>G
NM_001203249.2:c.1683+11A>G NP_001190178.1:n.1683+11A>G
NM_004456.4:c.1851+11A>G , LRG_531t1:c.1851+11A>G NP_004447.2:n.1851+11A>G
NM_152998.2:c.1719+11A>G NP_694543.1:n.1719+11A>G
NM_152998.3:c.1719+11A>G NP_694543.1:n.1719+11A>G
ENST00000320356.6:c.1851+11A>G ENSP00000320147.2:n.1851+11A>G
ENST00000350995.6:c.1719+11A>G ENSP00000223193.2:n.1719+11A>G
ENST00000460911.5:c.1836+11A>G ENSP00000419711.1:n.1836+11A>G
ENST00000476773.5:c.1683+11A>G ENSP00000419050.1:n.1683+11A>G
ENST00000478654.5:c.1683+11A>G ENSP00000417062.1:n.1683+11A>G
ENST00000483967.5:c.1809+11A>G ENSP00000419856.1:n.1809+11A>G
ENST00000492143.5:c.*1841+11A>G ENSP00000417377.1:n.*1841+11A>G
ENST00000682263.1:n.3751+11A>G
ENST00000682317.1:c.*913+11A>G ENSP00000508286.1:n.*913+11A>G
ENST00000683292.1:c.*747+11A>G ENSP00000507503.1:n.*747+11A>G
ENST00000683293.1:n.3570+11A>G
ENST00000683744.1:c.*913+11A>G ENSP00000506949.1:n.*913+11A>G
ENST00000684300.1:c.*913+11A>G ENSP00000508407.1:n.*913+11A>G
ENST00000684400.1:n.2742+11A>G
ENST00000684436.1:n.2167+11A>G
ENST00000684510.1:n.2229+11A>G
XM_005249962.3:c.1860+11A>G XP_005250019.1:n.1860+11A>G
XM_005249962.4:c.1860+11A>G XP_005250019.1:n.1860+11A>G
XM_005249963.3:c.1833+11A>G XP_005250020.1:n.1833+11A>G
XM_005249963.4:c.1833+11A>G XP_005250020.1:n.1833+11A>G
XM_005249964.3:c.1707+11A>G XP_005250021.1:n.1707+11A>G
XM_005249964.4:c.1707+11A>G XP_005250021.1:n.1707+11A>G
XM_011515883.1:c.1875+11A>G XP_011514185.1:n.1875+11A>G
XM_011515883.2:c.1875+11A>G XP_011514185.1:n.1875+11A>G
XM_011515884.1:c.1851+11A>G XP_011514186.1:n.1851+11A>G
XM_011515884.2:c.1851+11A>G XP_011514186.1:n.1851+11A>G
XM_011515885.1:c.1848+11A>G XP_011514187.1:n.1848+11A>G
XM_011515885.2:c.1848+11A>G XP_011514187.1:n.1848+11A>G
XM_011515886.1:c.1827+11A>G XP_011514188.1:n.1827+11A>G
XM_011515886.2:c.1827+11A>G XP_011514188.1:n.1827+11A>G
XM_011515887.1:c.1824+11A>G XP_011514189.1:n.1824+11A>G
XM_011515887.3:c.1824+11A>G XP_011514189.1:n.1824+11A>G
XM_011515888.1:c.1824+11A>G XP_011514190.1:n.1824+11A>G
XM_011515888.2:c.1824+11A>G XP_011514190.1:n.1824+11A>G
XM_011515889.1:c.1785+11A>G XP_011514191.1:n.1785+11A>G
XM_011515889.2:c.1785+11A>G XP_011514191.1:n.1785+11A>G
XM_011515890.1:c.1758+11A>G XP_011514192.1:n.1758+11A>G
XM_011515890.2:c.1758+11A>G XP_011514192.1:n.1758+11A>G
XM_011515891.1:c.1752+11A>G XP_011514193.1:n.1752+11A>G
XM_011515891.3:c.1752+11A>G XP_011514193.1:n.1752+11A>G
XM_011515892.1:c.1749+11A>G XP_011514194.1:n.1749+11A>G
XM_011515892.2:c.1749+11A>G XP_011514194.1:n.1749+11A>G
XM_011515893.1:c.1743+11A>G XP_011514195.1:n.1743+11A>G
XM_011515893.2:c.1743+11A>G XP_011514195.1:n.1743+11A>G
XM_011515894.1:c.1734+11A>G XP_011514196.1:n.1734+11A>G
XM_011515894.2:c.1734+11A>G XP_011514196.1:n.1734+11A>G
XM_011515895.1:c.1731+11A>G XP_011514197.1:n.1731+11A>G
XM_011515895.2:c.1731+11A>G XP_011514197.1:n.1731+11A>G
XM_011515896.1:c.1617+11A>G XP_011514198.1:n.1617+11A>G
XM_011515896.2:c.1617+11A>G XP_011514198.1:n.1617+11A>G
XM_011515897.1:c.1524+11A>G XP_011514199.1:n.1524+11A>G
XM_011515897.2:c.1524+11A>G XP_011514199.1:n.1524+11A>G
XM_011515898.1:c.1524+11A>G XP_011514200.1:n.1524+11A>G
XM_011515898.2:c.1524+11A>G XP_011514200.1:n.1524+11A>G
XM_017011817.2:c.1875+11A>G XP_016867306.1:n.1875+11A>G
XM_017011818.1:c.1812+11A>G XP_016867307.1:n.1812+11A>G
XM_017011819.1:c.1734+11A>G XP_016867308.1:n.1734+11A>G
XM_017011820.2:c.1707+11A>G XP_016867309.1:n.1707+11A>G
XM_017011821.1:c.1509+11A>G XP_016867310.1:n.1509+11A>G
XM_024446680.1:c.1737+11A>G XP_024302448.1:n.1737+11A>G
XR_001744581.1:n.4225+11A>G
XR_002956413.1:n.4881+11A>G
XR_002956414.1:n.5341+11A>G
XR_928101.1:n.515+8863T>C
XR_928102.1:n.722+8863T>C