Canonical Allele Identifier: CA12705383
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148814416C>T , CM000669.2:g.148814416C>T GRCh38
NC_000007.13:g.148511508C>T , CM000669.1:g.148511508C>T GRCh37
NC_000007.12:g.148142441C>T NCBI36
NG_032043.1:g.74934G>A , LRG_531:g.74934G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.1673-279G>A MANE Select NP_004447.2:n.1673-279G>A
ENST00000320356.7:c.1673-279G>A MANE Select ENSP00000320147.2:n.1673-279G>A
NM_001203247.1:c.1658-279G>A NP_001190176.1:n.1658-279G>A
NM_001203247.2:c.1658-279G>A NP_001190176.1:n.1658-279G>A
NM_001203248.1:c.1631-279G>A NP_001190177.1:n.1631-279G>A
NM_001203248.2:c.1631-279G>A NP_001190177.1:n.1631-279G>A
NM_001203249.1:c.1505-279G>A NP_001190178.1:n.1505-279G>A
NM_001203249.2:c.1505-279G>A NP_001190178.1:n.1505-279G>A
NM_004456.4:c.1673-279G>A , LRG_531t1:c.1673-279G>A NP_004447.2:n.1673-279G>A
NM_152998.2:c.1541-279G>A NP_694543.1:n.1541-279G>A
NM_152998.3:c.1541-279G>A NP_694543.1:n.1541-279G>A
ENST00000320356.6:c.1673-279G>A ENSP00000320147.2:n.1673-279G>A
ENST00000350995.6:c.1541-279G>A ENSP00000223193.2:n.1541-279G>A
ENST00000460911.5:c.1658-279G>A ENSP00000419711.1:n.1658-279G>A
ENST00000476773.5:c.1505-279G>A ENSP00000419050.1:n.1505-279G>A
ENST00000478654.5:c.1505-279G>A ENSP00000417062.1:n.1505-279G>A
ENST00000483967.5:c.1631-279G>A ENSP00000419856.1:n.1631-279G>A
ENST00000492143.5:c.*1663-279G>A ENSP00000417377.1:n.*1663-279G>A
ENST00000682263.1:n.3294G>A
ENST00000682317.1:c.*735-279G>A ENSP00000508286.1:n.*735-279G>A
ENST00000683292.1:c.*569-279G>A ENSP00000507503.1:n.*569-279G>A
ENST00000683293.1:n.3113G>A
ENST00000683744.1:c.*735-279G>A ENSP00000506949.1:n.*735-279G>A
ENST00000684300.1:c.*735-279G>A ENSP00000508407.1:n.*735-279G>A
ENST00000684400.1:n.2285G>A
ENST00000684436.1:n.1989-279G>A
ENST00000684510.1:n.2051-279G>A
XM_005249962.3:c.1682-279G>A XP_005250019.1:n.1682-279G>A
XM_005249962.4:c.1682-279G>A XP_005250019.1:n.1682-279G>A
XM_005249963.3:c.1655-279G>A XP_005250020.1:n.1655-279G>A
XM_005249963.4:c.1655-279G>A XP_005250020.1:n.1655-279G>A
XM_005249964.3:c.1529-279G>A XP_005250021.1:n.1529-279G>A
XM_005249964.4:c.1529-279G>A XP_005250021.1:n.1529-279G>A
XM_011515883.1:c.1697-279G>A XP_011514185.1:n.1697-279G>A
XM_011515883.2:c.1697-279G>A XP_011514185.1:n.1697-279G>A
XM_011515884.1:c.1673-279G>A XP_011514186.1:n.1673-279G>A
XM_011515884.2:c.1673-279G>A XP_011514186.1:n.1673-279G>A
XM_011515885.1:c.1670-279G>A XP_011514187.1:n.1670-279G>A
XM_011515885.2:c.1670-279G>A XP_011514187.1:n.1670-279G>A
XM_011515886.1:c.1649-279G>A XP_011514188.1:n.1649-279G>A
XM_011515886.2:c.1649-279G>A XP_011514188.1:n.1649-279G>A
XM_011515887.1:c.1646-279G>A XP_011514189.1:n.1646-279G>A
XM_011515887.3:c.1646-279G>A XP_011514189.1:n.1646-279G>A
XM_011515888.1:c.1646-279G>A XP_011514190.1:n.1646-279G>A
XM_011515888.2:c.1646-279G>A XP_011514190.1:n.1646-279G>A
XM_011515889.1:c.1607-279G>A XP_011514191.1:n.1607-279G>A
XM_011515889.2:c.1607-279G>A XP_011514191.1:n.1607-279G>A
XM_011515890.1:c.1580-279G>A XP_011514192.1:n.1580-279G>A
XM_011515890.2:c.1580-279G>A XP_011514192.1:n.1580-279G>A
XM_011515891.1:c.1574-279G>A XP_011514193.1:n.1574-279G>A
XM_011515891.3:c.1574-279G>A XP_011514193.1:n.1574-279G>A
XM_011515892.1:c.1571-279G>A XP_011514194.1:n.1571-279G>A
XM_011515892.2:c.1571-279G>A XP_011514194.1:n.1571-279G>A
XM_011515893.1:c.1565-279G>A XP_011514195.1:n.1565-279G>A
XM_011515893.2:c.1565-279G>A XP_011514195.1:n.1565-279G>A
XM_011515894.1:c.1556-279G>A XP_011514196.1:n.1556-279G>A
XM_011515894.2:c.1556-279G>A XP_011514196.1:n.1556-279G>A
XM_011515895.1:c.1553-279G>A XP_011514197.1:n.1553-279G>A
XM_011515895.2:c.1553-279G>A XP_011514197.1:n.1553-279G>A
XM_011515896.1:c.1439-279G>A XP_011514198.1:n.1439-279G>A
XM_011515896.2:c.1439-279G>A XP_011514198.1:n.1439-279G>A
XM_011515897.1:c.1346-279G>A XP_011514199.1:n.1346-279G>A
XM_011515897.2:c.1346-279G>A XP_011514199.1:n.1346-279G>A
XM_011515898.1:c.1346-279G>A XP_011514200.1:n.1346-279G>A
XM_011515898.2:c.1346-279G>A XP_011514200.1:n.1346-279G>A
XM_011515901.1:c.*7-279G>A XP_011514203.1:n.*7-279G>A
XM_011515901.3:c.*7-279G>A XP_011514203.1:n.*7-279G>A
XM_017011817.2:c.1697-279G>A XP_016867306.1:n.1697-279G>A
XM_017011818.1:c.1634-279G>A XP_016867307.1:n.1634-279G>A
XM_017011819.1:c.1556-279G>A XP_016867308.1:n.1556-279G>A
XM_017011820.2:c.1529-279G>A XP_016867309.1:n.1529-279G>A
XM_017011821.1:c.1331-279G>A XP_016867310.1:n.1331-279G>A
XM_024446680.1:c.1559-279G>A XP_024302448.1:n.1559-279G>A
XR_001744581.1:n.4047-279G>A
XR_002956413.1:n.4703-279G>A
XR_002956414.1:n.5163-279G>A
XR_928101.1:n.515+9331C>T
XR_928102.1:n.722+9331C>T