Canonical Allele Identifier: CA4547873

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148816664G>C , CM000669.2:g.148816664G>C	GRCh38
NC_000007.13:g.148513756G>C , CM000669.1:g.148513756G>C	GRCh37
NC_000007.12:g.148144689G>C	NCBI36
NG_032043.1:g.72686C>G , LRG_531:g.72686C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004456.5:c.1505+20C>G MANE Select	NP_004447.2:n.1505+20C>G
ENST00000320356.7:c.1505+20C>G MANE Select	ENSP00000320147.2:n.1505+20C>G
NM_001203247.1:c.1490+20C>G	NP_001190176.1:n.1490+20C>G
NM_001203247.2:c.1490+20C>G	NP_001190176.1:n.1490+20C>G
NM_001203248.1:c.1463+20C>G	NP_001190177.1:n.1463+20C>G
NM_001203248.2:c.1463+20C>G	NP_001190177.1:n.1463+20C>G
NM_001203249.1:c.1463+20C>G	NP_001190178.1:n.1463+20C>G
NM_001203249.2:c.1463+20C>G	NP_001190178.1:n.1463+20C>G
NM_004456.4:c.1505+20C>G , LRG_531t1:c.1505+20C>G	NP_004447.2:n.1505+20C>G
NM_152998.2:c.1373+20C>G	NP_694543.1:n.1373+20C>G
NM_152998.3:c.1373+20C>G	NP_694543.1:n.1373+20C>G
ENST00000320356.6:c.1505+20C>G	ENSP00000320147.2:n.1505+20C>G
ENST00000350995.6:c.1373+20C>G	ENSP00000223193.2:n.1373+20C>G
ENST00000460911.5:c.1490+20C>G	ENSP00000419711.1:n.1490+20C>G
ENST00000476773.5:c.1463+20C>G	ENSP00000419050.1:n.1463+20C>G
ENST00000478654.5:c.1463+20C>G	ENSP00000417062.1:n.1463+20C>G
ENST00000483967.5:c.1463+20C>G	ENSP00000419856.1:n.1463+20C>G
ENST00000492143.5:c.*1495+20C>G	ENSP00000417377.1:n.*1495+20C>G
ENST00000682263.1:n.2163+20C>G
ENST00000682317.1:c.*567+20C>G	ENSP00000508286.1:n.*567+20C>G
ENST00000683292.1:c.1163+20C>G	ENSP00000507503.1:n.1163+20C>G
ENST00000683293.1:n.865C>G
ENST00000683744.1:c.*567+20C>G	ENSP00000506949.1:n.*567+20C>G
ENST00000684300.1:c.*567+20C>G	ENSP00000508407.1:n.*567+20C>G
ENST00000684400.1:n.37C>G
ENST00000684436.1:n.1821+20C>G
ENST00000684510.1:n.1883+20C>G
XM_005249962.3:c.1514+20C>G	XP_005250019.1:n.1514+20C>G
XM_005249962.4:c.1514+20C>G	XP_005250019.1:n.1514+20C>G
XM_005249963.3:c.1487+20C>G	XP_005250020.1:n.1487+20C>G
XM_005249963.4:c.1487+20C>G	XP_005250020.1:n.1487+20C>G
XM_005249964.3:c.1487+20C>G	XP_005250021.1:n.1487+20C>G
XM_005249964.4:c.1487+20C>G	XP_005250021.1:n.1487+20C>G
XM_011515883.1:c.1529+20C>G	XP_011514185.1:n.1529+20C>G
XM_011515883.2:c.1529+20C>G	XP_011514185.1:n.1529+20C>G
XM_011515884.1:c.1505+20C>G	XP_011514186.1:n.1505+20C>G
XM_011515884.2:c.1505+20C>G	XP_011514186.1:n.1505+20C>G
XM_011515885.1:c.1502+20C>G	XP_011514187.1:n.1502+20C>G
XM_011515885.2:c.1502+20C>G	XP_011514187.1:n.1502+20C>G
XM_011515886.1:c.1481+20C>G	XP_011514188.1:n.1481+20C>G
XM_011515886.2:c.1481+20C>G	XP_011514188.1:n.1481+20C>G
XM_011515887.1:c.1478+20C>G	XP_011514189.1:n.1478+20C>G
XM_011515887.3:c.1478+20C>G	XP_011514189.1:n.1478+20C>G
XM_011515888.1:c.1478+20C>G	XP_011514190.1:n.1478+20C>G
XM_011515888.2:c.1478+20C>G	XP_011514190.1:n.1478+20C>G
XM_011515889.1:c.1439+20C>G	XP_011514191.1:n.1439+20C>G
XM_011515889.2:c.1439+20C>G	XP_011514191.1:n.1439+20C>G
XM_011515890.1:c.1412+20C>G	XP_011514192.1:n.1412+20C>G
XM_011515890.2:c.1412+20C>G	XP_011514192.1:n.1412+20C>G
XM_011515891.1:c.1406+20C>G	XP_011514193.1:n.1406+20C>G
XM_011515891.3:c.1406+20C>G	XP_011514193.1:n.1406+20C>G
XM_011515892.1:c.1529+20C>G	XP_011514194.1:n.1529+20C>G
XM_011515892.2:c.1529+20C>G	XP_011514194.1:n.1529+20C>G
XM_011515893.1:c.1397+20C>G	XP_011514195.1:n.1397+20C>G
XM_011515893.2:c.1397+20C>G	XP_011514195.1:n.1397+20C>G
XM_011515894.1:c.1388+20C>G	XP_011514196.1:n.1388+20C>G
XM_011515894.2:c.1388+20C>G	XP_011514196.1:n.1388+20C>G
XM_011515895.1:c.1385+20C>G	XP_011514197.1:n.1385+20C>G
XM_011515895.2:c.1385+20C>G	XP_011514197.1:n.1385+20C>G
XM_011515896.1:c.1397+20C>G	XP_011514198.1:n.1397+20C>G
XM_011515896.2:c.1397+20C>G	XP_011514198.1:n.1397+20C>G
XM_011515897.1:c.1178+20C>G	XP_011514199.1:n.1178+20C>G
XM_011515897.2:c.1178+20C>G	XP_011514199.1:n.1178+20C>G
XM_011515898.1:c.1178+20C>G	XP_011514200.1:n.1178+20C>G
XM_011515898.2:c.1178+20C>G	XP_011514200.1:n.1178+20C>G
XM_011515899.1:c.1529+20C>G	XP_011514201.1:n.1529+20C>G
XM_011515899.3:c.1529+20C>G	XP_011514201.1:n.1529+20C>G
XM_011515900.1:c.1265-1118C>G	XP_011514202.1:n.1265-1118C>G
XM_011515901.1:c.1265-1118C>G	XP_011514203.1:n.1265-1118C>G
XM_011515901.3:c.1265-1118C>G	XP_011514203.1:n.1265-1118C>G
XM_017011817.2:c.1529+20C>G	XP_016867306.1:n.1529+20C>G
XM_017011818.1:c.1466+20C>G	XP_016867307.1:n.1466+20C>G
XM_017011819.1:c.1514+20C>G	XP_016867308.1:n.1514+20C>G
XM_017011820.2:c.1361+20C>G	XP_016867309.1:n.1361+20C>G
XM_017011821.1:c.1163+20C>G	XP_016867310.1:n.1163+20C>G
XM_024446680.1:c.1391+20C>G	XP_024302448.1:n.1391+20C>G
XR_001744581.1:n.3880-1118C>G
XR_002956413.1:n.4127+20C>G
XR_002956414.1:n.4587+20C>G
XR_928101.1:n.516-7287G>C
XR_928102.1:n.723-7287G>C