Canonical Allele Identifier: CA369713527

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148814085C>G , CM000669.2:g.148814085C>G	GRCh38
NC_000007.13:g.148511177C>G , CM000669.1:g.148511177C>G	GRCh37
NC_000007.12:g.148142110C>G	NCBI36
NG_032043.1:g.75265G>C , LRG_531:g.75265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3625G>C
ENST00000682317.1:c.*787G>C	ENSP00000508286.1:n.*787G>C
ENST00000683292.1:c.*621G>C	ENSP00000507503.1:n.*621G>C
ENST00000683293.1:n.3444G>C
ENST00000683744.1:c.*787G>C	ENSP00000506949.1:n.*787G>C
ENST00000684300.1:c.*787G>C	ENSP00000508407.1:n.*787G>C
ENST00000684400.1:n.2616G>C
ENST00000684436.1:n.2041G>C
ENST00000684510.1:n.2103G>C
ENST00000320356.7:c.1725G>C MANE Select	ENSP00000320147.2:p.Gln575His
ENST00000320356.6:c.1725G>C	ENSP00000320147.2:p.Gln575His
ENST00000350995.6:c.1593G>C	ENSP00000223193.2:p.Gln531His
ENST00000460911.5:c.1710G>C	ENSP00000419711.1:p.Gln570His
ENST00000476773.5:c.1557G>C	ENSP00000419050.1:p.Gln519His
ENST00000478654.5:c.1557G>C	ENSP00000417062.1:p.Gln519His
ENST00000483967.5:c.1683G>C	ENSP00000419856.1:p.Gln561His
ENST00000492143.5:c.*1715G>C	ENSP00000417377.1:n.*1715G>C
NM_001203247.1:c.1710G>C	NP_001190176.1:p.Gln570His
NM_001203248.1:c.1683G>C	NP_001190177.1:p.Gln561His
NM_001203249.1:c.1557G>C	NP_001190178.1:p.Gln519His
NM_004456.4:c.1725G>C , LRG_531t1:c.1725G>C	NP_004447.2:p.Gln575His
NM_152998.2:c.1593G>C	NP_694543.1:p.Gln531His
XM_005249962.3:c.1734G>C	XP_005250019.1:p.Gln578His
XM_005249963.3:c.1707G>C	XP_005250020.1:p.Gln569His
XM_005249964.3:c.1581G>C	XP_005250021.1:p.Gln527His
XM_011515883.1:c.1749G>C	XP_011514185.1:p.Gln583His
XM_011515884.1:c.1725G>C	XP_011514186.1:p.Gln575His
XM_011515885.1:c.1722G>C	XP_011514187.1:p.Gln574His
XM_011515886.1:c.1701G>C	XP_011514188.1:p.Gln567His
XM_011515887.1:c.1698G>C	XP_011514189.1:p.Gln566His
XM_011515888.1:c.1698G>C	XP_011514190.1:p.Gln566His
XM_011515889.1:c.1659G>C	XP_011514191.1:p.Gln553His
XM_011515890.1:c.1632G>C	XP_011514192.1:p.Gln544His
XM_011515891.1:c.1626G>C	XP_011514193.1:p.Gln542His
XM_011515892.1:c.1623G>C	XP_011514194.1:p.Gln541His
XM_011515893.1:c.1617G>C	XP_011514195.1:p.Gln539His
XM_011515894.1:c.1608G>C	XP_011514196.1:p.Gln536His
XM_011515895.1:c.1605G>C	XP_011514197.1:p.Gln535His
XM_011515896.1:c.1491G>C	XP_011514198.1:p.Gln497His
XM_011515897.1:c.1398G>C	XP_011514199.1:p.Gln466His
XM_011515898.1:c.1398G>C	XP_011514200.1:p.Gln466His
XM_011515901.1:c.*59G>C	XP_011514203.1:n.*59G>C
XR_928101.1:n.515+9000C>G
XR_928102.1:n.722+9000C>G
XM_005249962.4:c.1734G>C	XP_005250019.1:p.Gln578His
XM_005249963.4:c.1707G>C	XP_005250020.1:p.Gln569His
XM_005249964.4:c.1581G>C	XP_005250021.1:p.Gln527His
XM_011515883.2:c.1749G>C	XP_011514185.1:p.Gln583His
XM_011515884.2:c.1725G>C	XP_011514186.1:p.Gln575His
XM_011515885.2:c.1722G>C	XP_011514187.1:p.Gln574His
XM_011515886.2:c.1701G>C	XP_011514188.1:p.Gln567His
XM_011515887.3:c.1698G>C	XP_011514189.1:p.Gln566His
XM_011515888.2:c.1698G>C	XP_011514190.1:p.Gln566His
XM_011515889.2:c.1659G>C	XP_011514191.1:p.Gln553His
XM_011515890.2:c.1632G>C	XP_011514192.1:p.Gln544His
XM_011515891.3:c.1626G>C	XP_011514193.1:p.Gln542His
XM_011515892.2:c.1623G>C	XP_011514194.1:p.Gln541His
XM_011515893.2:c.1617G>C	XP_011514195.1:p.Gln539His
XM_011515894.2:c.1608G>C	XP_011514196.1:p.Gln536His
XM_011515895.2:c.1605G>C	XP_011514197.1:p.Gln535His
XM_011515896.2:c.1491G>C	XP_011514198.1:p.Gln497His
XM_011515897.2:c.1398G>C	XP_011514199.1:p.Gln466His
XM_011515898.2:c.1398G>C	XP_011514200.1:p.Gln466His
XM_011515901.3:c.*59G>C	XP_011514203.1:n.*59G>C
XM_017011817.2:c.1749G>C	XP_016867306.1:p.Gln583His
XM_017011818.1:c.1686G>C	XP_016867307.1:p.Gln562His
XM_017011819.1:c.1608G>C	XP_016867308.1:p.Gln536His
XM_017011820.2:c.1581G>C	XP_016867309.1:p.Gln527His
XM_017011821.1:c.1383G>C	XP_016867310.1:p.Gln461His
XM_024446680.1:c.1611G>C	XP_024302448.1:p.Gln537His
XR_001744581.1:n.4099G>C
XR_002956413.1:n.4755G>C
XR_002956414.1:n.5215G>C
NM_001203247.2:c.1710G>C	NP_001190176.1:p.Gln570His
NM_001203248.2:c.1683G>C	NP_001190177.1:p.Gln561His
NM_001203249.2:c.1557G>C	NP_001190178.1:p.Gln519His
NM_004456.5:c.1725G>C MANE Select	NP_004447.2:p.Gln575His
NM_152998.3:c.1593G>C	NP_694543.1:p.Gln531His