Canonical Allele Identifier: CA369712496
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148810336T>C , CM000669.2:g.148810336T>C GRCh38
NC_000007.13:g.148507428T>C , CM000669.1:g.148507428T>C GRCh37
NC_000007.12:g.148138361T>C NCBI36
NG_032043.1:g.79014A>G , LRG_531:g.79014A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.2026A>G MANE Select NP_004447.2:p.Asn676Asp
ENST00000320356.7:c.2026A>G MANE Select ENSP00000320147.2:p.Asn676Asp
NM_001203247.1:c.2011A>G NP_001190176.1:p.Asn671Asp
NM_001203247.2:c.2011A>G NP_001190176.1:p.Asn671Asp
NM_001203248.1:c.1984A>G NP_001190177.1:p.Asn662Asp
NM_001203248.2:c.1984A>G NP_001190177.1:p.Asn662Asp
NM_001203249.1:c.1858A>G NP_001190178.1:p.Asn620Asp
NM_001203249.2:c.1858A>G NP_001190178.1:p.Asn620Asp
NM_004456.4:c.2026A>G , LRG_531t1:c.2026A>G NP_004447.2:p.Asn676Asp
NM_152998.2:c.1894A>G NP_694543.1:p.Asn632Asp
NM_152998.3:c.1894A>G NP_694543.1:p.Asn632Asp
ENST00000320356.6:c.2026A>G ENSP00000320147.2:p.Asn676Asp
ENST00000350995.6:c.1894A>G ENSP00000223193.2:p.Asn632Asp
ENST00000460911.5:c.2011A>G ENSP00000419711.1:p.Asn671Asp
ENST00000469631.1:n.278A>G
ENST00000476773.5:c.1858A>G ENSP00000419050.1:p.Asn620Asp
ENST00000478654.5:c.1858A>G ENSP00000417062.1:p.Asn620Asp
ENST00000483967.5:c.1984A>G ENSP00000419856.1:p.Asn662Asp
ENST00000492143.5:c.*2016A>G ENSP00000417377.1:n.*2016A>G
ENST00000682263.1:n.3926A>G
ENST00000682317.1:c.*1088A>G ENSP00000508286.1:n.*1088A>G
ENST00000683292.1:c.*922A>G ENSP00000507503.1:n.*922A>G
ENST00000683293.1:n.3745A>G
ENST00000683744.1:c.*1088A>G ENSP00000506949.1:n.*1088A>G
ENST00000684300.1:c.*1088A>G ENSP00000508407.1:n.*1088A>G
ENST00000684400.1:n.2917A>G
ENST00000684436.1:n.2342A>G
ENST00000684510.1:n.2404A>G
XM_005249962.3:c.2035A>G XP_005250019.1:p.Asn679Asp
XM_005249962.4:c.2035A>G XP_005250019.1:p.Asn679Asp
XM_005249963.3:c.2008A>G XP_005250020.1:p.Asn670Asp
XM_005249963.4:c.2008A>G XP_005250020.1:p.Asn670Asp
XM_005249964.3:c.1882A>G XP_005250021.1:p.Asn628Asp
XM_005249964.4:c.1882A>G XP_005250021.1:p.Asn628Asp
XM_011515883.1:c.2050A>G XP_011514185.1:p.Asn684Asp
XM_011515883.2:c.2050A>G XP_011514185.1:p.Asn684Asp
XM_011515884.1:c.2026A>G XP_011514186.1:p.Asn676Asp
XM_011515884.2:c.2026A>G XP_011514186.1:p.Asn676Asp
XM_011515885.1:c.2023A>G XP_011514187.1:p.Asn675Asp
XM_011515885.2:c.2023A>G XP_011514187.1:p.Asn675Asp
XM_011515886.1:c.2002A>G XP_011514188.1:p.Asn668Asp
XM_011515886.2:c.2002A>G XP_011514188.1:p.Asn668Asp
XM_011515887.1:c.1999A>G XP_011514189.1:p.Asn667Asp
XM_011515887.3:c.1999A>G XP_011514189.1:p.Asn667Asp
XM_011515888.1:c.1999A>G XP_011514190.1:p.Asn667Asp
XM_011515888.2:c.1999A>G XP_011514190.1:p.Asn667Asp
XM_011515889.1:c.1960A>G XP_011514191.1:p.Asn654Asp
XM_011515889.2:c.1960A>G XP_011514191.1:p.Asn654Asp
XM_011515890.1:c.1933A>G XP_011514192.1:p.Asn645Asp
XM_011515890.2:c.1933A>G XP_011514192.1:p.Asn645Asp
XM_011515891.1:c.1927A>G XP_011514193.1:p.Asn643Asp
XM_011515891.3:c.1927A>G XP_011514193.1:p.Asn643Asp
XM_011515892.1:c.1924A>G XP_011514194.1:p.Asn642Asp
XM_011515892.2:c.1924A>G XP_011514194.1:p.Asn642Asp
XM_011515893.1:c.1918A>G XP_011514195.1:p.Asn640Asp
XM_011515893.2:c.1918A>G XP_011514195.1:p.Asn640Asp
XM_011515894.1:c.1909A>G XP_011514196.1:p.Asn637Asp
XM_011515894.2:c.1909A>G XP_011514196.1:p.Asn637Asp
XM_011515895.1:c.1906A>G XP_011514197.1:p.Asn636Asp
XM_011515895.2:c.1906A>G XP_011514197.1:p.Asn636Asp
XM_011515896.1:c.1792A>G XP_011514198.1:p.Asn598Asp
XM_011515896.2:c.1792A>G XP_011514198.1:p.Asn598Asp
XM_011515897.1:c.1699A>G XP_011514199.1:p.Asn567Asp
XM_011515897.2:c.1699A>G XP_011514199.1:p.Asn567Asp
XM_011515898.1:c.1699A>G XP_011514200.1:p.Asn567Asp
XM_011515898.2:c.1699A>G XP_011514200.1:p.Asn567Asp
XM_017011817.2:c.2050A>G XP_016867306.1:p.Asn684Asp
XM_017011818.1:c.1987A>G XP_016867307.1:p.Asn663Asp
XM_017011819.1:c.1909A>G XP_016867308.1:p.Asn637Asp
XM_017011820.2:c.1882A>G XP_016867309.1:p.Asn628Asp
XM_017011821.1:c.1684A>G XP_016867310.1:p.Asn562Asp
XM_024446680.1:c.1912A>G XP_024302448.1:p.Asn638Asp
XR_001744581.1:n.4400A>G
XR_002956413.1:n.5056A>G
XR_002956414.1:n.5516A>G
XR_928101.1:n.515+5251T>C
XR_928102.1:n.722+5251T>C