Canonical Allele Identifier: CA2695208606
Gene: EZH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807708_148807721del , CM000669.2:g.148807708_148807721del GRCh38
NC_000007.13:g.148504800_148504813del , CM000669.1:g.148504800_148504813del GRCh37
NC_000007.12:g.148135733_148135746del NCBI36
NG_032043.1:g.81629_81642del , LRG_531:g.81629_81642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-15_4096-2del
ENST00000682317.1:c.*1258-15_*1258-2del ENSP00000508286.1:n.*1258-15_*1258-2del
ENST00000683292.1:c.*1092-15_*1092-2del ENSP00000507503.1:n.*1092-15_*1092-2del
ENST00000683293.1:n.3915-15_3915-2del
ENST00000683744.1:c.*1258-15_*1258-2del ENSP00000506949.1:n.*1258-15_*1258-2del
ENST00000684300.1:c.*1258-15_*1258-2del ENSP00000508407.1:n.*1258-15_*1258-2del
ENST00000684400.1:n.4183-15_4183-2del
ENST00000684436.1:n.2512-15_2512-2del
ENST00000684510.1:n.2574-15_2574-2del
ENST00000320356.7:c.2196-15_2196-2del MANE Select ENSP00000320147.2:n.2196-15_2196-2del
ENST00000320356.6:c.2196-15_2196-2del ENSP00000320147.2:n.2196-15_2196-2del
ENST00000350995.6:c.2064-15_2064-2del ENSP00000223193.2:n.2064-15_2064-2del
ENST00000460911.5:c.2181-15_2181-2del ENSP00000419711.1:n.2181-15_2181-2del
ENST00000476773.5:c.2028-15_2028-2del ENSP00000419050.1:n.2028-15_2028-2del
ENST00000478654.5:c.2028-15_2028-2del ENSP00000417062.1:n.2028-15_2028-2del
ENST00000483967.5:c.2154-15_2154-2del ENSP00000419856.1:n.2154-15_2154-2del
ENST00000492143.5:c.*2186-15_*2186-2del ENSP00000417377.1:n.*2186-15_*2186-2del
NM_001203247.1:c.2181-15_2181-2del NP_001190176.1:n.2181-15_2181-2del
NM_001203248.1:c.2154-15_2154-2del NP_001190177.1:n.2154-15_2154-2del
NM_001203249.1:c.2028-15_2028-2del NP_001190178.1:n.2028-15_2028-2del
NM_004456.4:c.2196-15_2196-2del , LRG_531t1:c.2196-15_2196-2del NP_004447.2:n.2196-15_2196-2del
NM_152998.2:c.2064-15_2064-2del NP_694543.1:n.2064-15_2064-2del
XM_005249962.3:c.2205-15_2205-2del XP_005250019.1:n.2205-15_2205-2del
XM_005249963.3:c.2178-15_2178-2del XP_005250020.1:n.2178-15_2178-2del
XM_005249964.3:c.2052-15_2052-2del XP_005250021.1:n.2052-15_2052-2del
XM_011515883.1:c.2220-15_2220-2del XP_011514185.1:n.2220-15_2220-2del
XM_011515884.1:c.2196-15_2196-2del XP_011514186.1:n.2196-15_2196-2del
XM_011515885.1:c.2193-15_2193-2del XP_011514187.1:n.2193-15_2193-2del
XM_011515886.1:c.2172-15_2172-2del XP_011514188.1:n.2172-15_2172-2del
XM_011515887.1:c.2169-15_2169-2del XP_011514189.1:n.2169-15_2169-2del
XM_011515888.1:c.2169-15_2169-2del XP_011514190.1:n.2169-15_2169-2del
XM_011515889.1:c.2130-15_2130-2del XP_011514191.1:n.2130-15_2130-2del
XM_011515890.1:c.2103-15_2103-2del XP_011514192.1:n.2103-15_2103-2del
XM_011515891.1:c.2097-15_2097-2del XP_011514193.1:n.2097-15_2097-2del
XM_011515892.1:c.2094-15_2094-2del XP_011514194.1:n.2094-15_2094-2del
XM_011515893.1:c.2088-15_2088-2del XP_011514195.1:n.2088-15_2088-2del
XM_011515894.1:c.2079-15_2079-2del XP_011514196.1:n.2079-15_2079-2del
XM_011515895.1:c.2076-15_2076-2del XP_011514197.1:n.2076-15_2076-2del
XM_011515896.1:c.1962-15_1962-2del XP_011514198.1:n.1962-15_1962-2del
XM_011515897.1:c.1869-15_1869-2del XP_011514199.1:n.1869-15_1869-2del
XM_011515898.1:c.1869-15_1869-2del XP_011514200.1:n.1869-15_1869-2del
XR_928101.1:n.515+2623_515+2636del
XR_928102.1:n.722+2623_722+2636del
XM_005249962.4:c.2205-15_2205-2del XP_005250019.1:n.2205-15_2205-2del
XM_005249963.4:c.2178-15_2178-2del XP_005250020.1:n.2178-15_2178-2del
XM_005249964.4:c.2052-15_2052-2del XP_005250021.1:n.2052-15_2052-2del
XM_011515883.2:c.2220-15_2220-2del XP_011514185.1:n.2220-15_2220-2del
XM_011515884.2:c.2196-15_2196-2del XP_011514186.1:n.2196-15_2196-2del
XM_011515885.2:c.2193-15_2193-2del XP_011514187.1:n.2193-15_2193-2del
XM_011515886.2:c.2172-15_2172-2del XP_011514188.1:n.2172-15_2172-2del
XM_011515887.3:c.2169-15_2169-2del XP_011514189.1:n.2169-15_2169-2del
XM_011515888.2:c.2169-15_2169-2del XP_011514190.1:n.2169-15_2169-2del
XM_011515889.2:c.2130-15_2130-2del XP_011514191.1:n.2130-15_2130-2del
XM_011515890.2:c.2103-15_2103-2del XP_011514192.1:n.2103-15_2103-2del
XM_011515891.3:c.2097-15_2097-2del XP_011514193.1:n.2097-15_2097-2del
XM_011515892.2:c.2094-15_2094-2del XP_011514194.1:n.2094-15_2094-2del
XM_011515893.2:c.2088-15_2088-2del XP_011514195.1:n.2088-15_2088-2del
XM_011515894.2:c.2079-15_2079-2del XP_011514196.1:n.2079-15_2079-2del
XM_011515895.2:c.2076-15_2076-2del XP_011514197.1:n.2076-15_2076-2del
XM_011515896.2:c.1962-15_1962-2del XP_011514198.1:n.1962-15_1962-2del
XM_011515897.2:c.1869-15_1869-2del XP_011514199.1:n.1869-15_1869-2del
XM_011515898.2:c.1869-15_1869-2del XP_011514200.1:n.1869-15_1869-2del
XM_017011817.2:c.2220-15_2220-2del XP_016867306.1:n.2220-15_2220-2del
XM_017011818.1:c.2157-15_2157-2del XP_016867307.1:n.2157-15_2157-2del
XM_017011819.1:c.2079-15_2079-2del XP_016867308.1:n.2079-15_2079-2del
XM_017011820.2:c.2052-15_2052-2del XP_016867309.1:n.2052-15_2052-2del
XM_017011821.1:c.1854-15_1854-2del XP_016867310.1:n.1854-15_1854-2del
XM_024446680.1:c.2082-15_2082-2del XP_024302448.1:n.2082-15_2082-2del
XR_001744581.1:n.4570-15_4570-2del
XR_002956413.1:n.5226-15_5226-2del
XR_002956414.1:n.5686-15_5686-2del
NM_001203247.2:c.2181-15_2181-2del NP_001190176.1:n.2181-15_2181-2del
NM_001203248.2:c.2154-15_2154-2del NP_001190177.1:n.2154-15_2154-2del
NM_001203249.2:c.2028-15_2028-2del NP_001190178.1:n.2028-15_2028-2del
NM_004456.5:c.2196-15_2196-2del MANE Select NP_004447.2:n.2196-15_2196-2del
NM_152998.3:c.2064-15_2064-2del NP_694543.1:n.2064-15_2064-2del
Search 100 bp 5'
Search 100 bp 3'