Canonical Allele Identifier: CA369715595
Community Standard Title: NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148817386T>C , CM000669.2:g.148817386T>C GRCh38
NC_000007.13:g.148514478T>C , CM000669.1:g.148514478T>C GRCh37
NC_000007.12:g.148145411T>C NCBI36
NG_032043.1:g.71964A>G , LRG_531:g.71964A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.1246A>G MANE Select NP_004447.2:p.Asn416Asp
ENST00000320356.7:c.1246A>G MANE Select ENSP00000320147.2:p.Asn416Asp
NM_001203247.1:c.1231A>G NP_001190176.1:p.Asn411Asp
NM_001203247.2:c.1231A>G NP_001190176.1:p.Asn411Asp
NM_001203248.1:c.1204A>G NP_001190177.1:p.Asn402Asp
NM_001203248.2:c.1204A>G NP_001190177.1:p.Asn402Asp
NM_001203249.1:c.1204A>G NP_001190178.1:p.Asn402Asp
NM_001203249.2:c.1204A>G NP_001190178.1:p.Asn402Asp
NM_004456.4:c.1246A>G , LRG_531t1:c.1246A>G NP_004447.2:p.Asn416Asp
NM_152998.2:c.1114A>G NP_694543.1:p.Asn372Asp
NM_152998.3:c.1114A>G NP_694543.1:p.Asn372Asp
ENST00000320356.6:c.1246A>G ENSP00000320147.2:p.Asn416Asp
ENST00000350995.6:c.1114A>G ENSP00000223193.2:p.Asn372Asp
ENST00000460911.5:c.1231A>G ENSP00000419711.1:p.Asn411Asp
ENST00000476773.5:c.1204A>G ENSP00000419050.1:p.Asn402Asp
ENST00000478654.5:c.1204A>G ENSP00000417062.1:p.Asn402Asp
ENST00000483967.5:c.1204A>G ENSP00000419856.1:p.Asn402Asp
ENST00000492143.5:c.*793A>G ENSP00000417377.1:n.*793A>G
ENST00000498186.5:n.1847A>G
ENST00000682263.1:n.1461A>G
ENST00000682317.1:c.*308A>G ENSP00000508286.1:n.*308A>G
ENST00000683292.1:c.904A>G ENSP00000507503.1:p.Asn302Asp
ENST00000683293.1:n.143A>G
ENST00000683744.1:c.*308A>G ENSP00000506949.1:n.*308A>G
ENST00000684300.1:c.*308A>G ENSP00000508407.1:n.*308A>G
ENST00000684436.1:n.1119A>G
ENST00000684510.1:n.1624A>G
XM_005249962.3:c.1255A>G XP_005250019.1:p.Asn419Asp
XM_005249962.4:c.1255A>G XP_005250019.1:p.Asn419Asp
XM_005249963.3:c.1228A>G XP_005250020.1:p.Asn410Asp
XM_005249963.4:c.1228A>G XP_005250020.1:p.Asn410Asp
XM_005249964.3:c.1228A>G XP_005250021.1:p.Asn410Asp
XM_005249964.4:c.1228A>G XP_005250021.1:p.Asn410Asp
XM_011515883.1:c.1270A>G XP_011514185.1:p.Asn424Asp
XM_011515883.2:c.1270A>G XP_011514185.1:p.Asn424Asp
XM_011515884.1:c.1246A>G XP_011514186.1:p.Asn416Asp
XM_011515884.2:c.1246A>G XP_011514186.1:p.Asn416Asp
XM_011515885.1:c.1243A>G XP_011514187.1:p.Asn415Asp
XM_011515885.2:c.1243A>G XP_011514187.1:p.Asn415Asp
XM_011515886.1:c.1222A>G XP_011514188.1:p.Asn408Asp
XM_011515886.2:c.1222A>G XP_011514188.1:p.Asn408Asp
XM_011515887.1:c.1219A>G XP_011514189.1:p.Asn407Asp
XM_011515887.3:c.1219A>G XP_011514189.1:p.Asn407Asp
XM_011515888.1:c.1219A>G XP_011514190.1:p.Asn407Asp
XM_011515888.2:c.1219A>G XP_011514190.1:p.Asn407Asp
XM_011515889.1:c.1180A>G XP_011514191.1:p.Asn394Asp
XM_011515889.2:c.1180A>G XP_011514191.1:p.Asn394Asp
XM_011515890.1:c.1153A>G XP_011514192.1:p.Asn385Asp
XM_011515890.2:c.1153A>G XP_011514192.1:p.Asn385Asp
XM_011515891.1:c.1147A>G XP_011514193.1:p.Asn383Asp
XM_011515891.3:c.1147A>G XP_011514193.1:p.Asn383Asp
XM_011515892.1:c.1270A>G XP_011514194.1:p.Asn424Asp
XM_011515892.2:c.1270A>G XP_011514194.1:p.Asn424Asp
XM_011515893.1:c.1138A>G XP_011514195.1:p.Asn380Asp
XM_011515893.2:c.1138A>G XP_011514195.1:p.Asn380Asp
XM_011515894.1:c.1129A>G XP_011514196.1:p.Asn377Asp
XM_011515894.2:c.1129A>G XP_011514196.1:p.Asn377Asp
XM_011515895.1:c.1126A>G XP_011514197.1:p.Asn376Asp
XM_011515895.2:c.1126A>G XP_011514197.1:p.Asn376Asp
XM_011515896.1:c.1138A>G XP_011514198.1:p.Asn380Asp
XM_011515896.2:c.1138A>G XP_011514198.1:p.Asn380Asp
XM_011515897.1:c.919A>G XP_011514199.1:p.Asn307Asp
XM_011515897.2:c.919A>G XP_011514199.1:p.Asn307Asp
XM_011515898.1:c.919A>G XP_011514200.1:p.Asn307Asp
XM_011515898.2:c.919A>G XP_011514200.1:p.Asn307Asp
XM_011515899.1:c.1270A>G XP_011514201.1:p.Asn424Asp
XM_011515899.3:c.1270A>G XP_011514201.1:p.Asn424Asp
XM_011515900.1:c.1264+491A>G XP_011514202.1:n.1264+491A>G
XM_011515901.1:c.1264+491A>G XP_011514203.1:n.1264+491A>G
XM_011515901.3:c.1264+491A>G XP_011514203.1:n.1264+491A>G
XM_011515902.1:c.1264+491A>G XP_011514204.1:n.1264+491A>G
XM_017011817.2:c.1270A>G XP_016867306.1:p.Asn424Asp
XM_017011818.1:c.1207A>G XP_016867307.1:p.Asn403Asp
XM_017011819.1:c.1255A>G XP_016867308.1:p.Asn419Asp
XM_017011820.2:c.1102A>G XP_016867309.1:p.Asn368Asp
XM_017011821.1:c.904A>G XP_016867310.1:p.Asn302Asp
XM_024446680.1:c.1132A>G XP_024302448.1:p.Asn378Asp
XR_001744581.1:n.3879+491A>G
XR_002956413.1:n.3868A>G
XR_002956414.1:n.3885A>G
XR_928101.1:n.516-6565T>C
XR_928102.1:n.723-6565T>C