Canonical Allele Identifier: CA2778367081
Gene: EZH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807810_148807814del , CM000669.2:g.148807810_148807814del GRCh38
NC_000007.13:g.148504902_148504906del , CM000669.1:g.148504902_148504906del GRCh37
NC_000007.12:g.148135835_148135839del NCBI36
NG_032043.1:g.81536_81540del , LRG_531:g.81536_81540del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-108_4096-104del
ENST00000682317.1:c.*1258-108_*1258-104del ENSP00000508286.1:n.*1258-108_*1258-104del
ENST00000683292.1:c.*1092-108_*1092-104del ENSP00000507503.1:n.*1092-108_*1092-104del
ENST00000683293.1:n.3915-108_3915-104del
ENST00000683744.1:c.*1258-108_*1258-104del ENSP00000506949.1:n.*1258-108_*1258-104del
ENST00000684300.1:c.*1258-108_*1258-104del ENSP00000508407.1:n.*1258-108_*1258-104del
ENST00000684400.1:n.4183-108_4183-104del
ENST00000684436.1:n.2512-108_2512-104del
ENST00000684510.1:n.2574-108_2574-104del
ENST00000320356.7:c.2196-108_2196-104del MANE Select ENSP00000320147.2:n.2196-108_2196-104del
ENST00000320356.6:c.2196-108_2196-104del ENSP00000320147.2:n.2196-108_2196-104del
ENST00000350995.6:c.2064-108_2064-104del ENSP00000223193.2:n.2064-108_2064-104del
ENST00000460911.5:c.2181-108_2181-104del ENSP00000419711.1:n.2181-108_2181-104del
ENST00000476773.5:c.2028-108_2028-104del ENSP00000419050.1:n.2028-108_2028-104del
ENST00000478654.5:c.2028-108_2028-104del ENSP00000417062.1:n.2028-108_2028-104del
ENST00000483967.5:c.2154-108_2154-104del ENSP00000419856.1:n.2154-108_2154-104del
ENST00000492143.5:c.*2186-108_*2186-104del ENSP00000417377.1:n.*2186-108_*2186-104del
NM_001203247.1:c.2181-108_2181-104del NP_001190176.1:n.2181-108_2181-104del
NM_001203248.1:c.2154-108_2154-104del NP_001190177.1:n.2154-108_2154-104del
NM_001203249.1:c.2028-108_2028-104del NP_001190178.1:n.2028-108_2028-104del
NM_004456.4:c.2196-108_2196-104del , LRG_531t1:c.2196-108_2196-104del NP_004447.2:n.2196-108_2196-104del
NM_152998.2:c.2064-108_2064-104del NP_694543.1:n.2064-108_2064-104del
XM_005249962.3:c.2205-108_2205-104del XP_005250019.1:n.2205-108_2205-104del
XM_005249963.3:c.2178-108_2178-104del XP_005250020.1:n.2178-108_2178-104del
XM_005249964.3:c.2052-108_2052-104del XP_005250021.1:n.2052-108_2052-104del
XM_011515883.1:c.2220-108_2220-104del XP_011514185.1:n.2220-108_2220-104del
XM_011515884.1:c.2196-108_2196-104del XP_011514186.1:n.2196-108_2196-104del
XM_011515885.1:c.2193-108_2193-104del XP_011514187.1:n.2193-108_2193-104del
XM_011515886.1:c.2172-108_2172-104del XP_011514188.1:n.2172-108_2172-104del
XM_011515887.1:c.2169-108_2169-104del XP_011514189.1:n.2169-108_2169-104del
XM_011515888.1:c.2169-108_2169-104del XP_011514190.1:n.2169-108_2169-104del
XM_011515889.1:c.2130-108_2130-104del XP_011514191.1:n.2130-108_2130-104del
XM_011515890.1:c.2103-108_2103-104del XP_011514192.1:n.2103-108_2103-104del
XM_011515891.1:c.2097-108_2097-104del XP_011514193.1:n.2097-108_2097-104del
XM_011515892.1:c.2094-108_2094-104del XP_011514194.1:n.2094-108_2094-104del
XM_011515893.1:c.2088-108_2088-104del XP_011514195.1:n.2088-108_2088-104del
XM_011515894.1:c.2079-108_2079-104del XP_011514196.1:n.2079-108_2079-104del
XM_011515895.1:c.2076-108_2076-104del XP_011514197.1:n.2076-108_2076-104del
XM_011515896.1:c.1962-108_1962-104del XP_011514198.1:n.1962-108_1962-104del
XM_011515897.1:c.1869-108_1869-104del XP_011514199.1:n.1869-108_1869-104del
XM_011515898.1:c.1869-108_1869-104del XP_011514200.1:n.1869-108_1869-104del
XR_928101.1:n.515+2725_515+2729del
XR_928102.1:n.722+2725_722+2729del
XM_005249962.4:c.2205-108_2205-104del XP_005250019.1:n.2205-108_2205-104del
XM_005249963.4:c.2178-108_2178-104del XP_005250020.1:n.2178-108_2178-104del
XM_005249964.4:c.2052-108_2052-104del XP_005250021.1:n.2052-108_2052-104del
XM_011515883.2:c.2220-108_2220-104del XP_011514185.1:n.2220-108_2220-104del
XM_011515884.2:c.2196-108_2196-104del XP_011514186.1:n.2196-108_2196-104del
XM_011515885.2:c.2193-108_2193-104del XP_011514187.1:n.2193-108_2193-104del
XM_011515886.2:c.2172-108_2172-104del XP_011514188.1:n.2172-108_2172-104del
XM_011515887.3:c.2169-108_2169-104del XP_011514189.1:n.2169-108_2169-104del
XM_011515888.2:c.2169-108_2169-104del XP_011514190.1:n.2169-108_2169-104del
XM_011515889.2:c.2130-108_2130-104del XP_011514191.1:n.2130-108_2130-104del
XM_011515890.2:c.2103-108_2103-104del XP_011514192.1:n.2103-108_2103-104del
XM_011515891.3:c.2097-108_2097-104del XP_011514193.1:n.2097-108_2097-104del
XM_011515892.2:c.2094-108_2094-104del XP_011514194.1:n.2094-108_2094-104del
XM_011515893.2:c.2088-108_2088-104del XP_011514195.1:n.2088-108_2088-104del
XM_011515894.2:c.2079-108_2079-104del XP_011514196.1:n.2079-108_2079-104del
XM_011515895.2:c.2076-108_2076-104del XP_011514197.1:n.2076-108_2076-104del
XM_011515896.2:c.1962-108_1962-104del XP_011514198.1:n.1962-108_1962-104del
XM_011515897.2:c.1869-108_1869-104del XP_011514199.1:n.1869-108_1869-104del
XM_011515898.2:c.1869-108_1869-104del XP_011514200.1:n.1869-108_1869-104del
XM_017011817.2:c.2220-108_2220-104del XP_016867306.1:n.2220-108_2220-104del
XM_017011818.1:c.2157-108_2157-104del XP_016867307.1:n.2157-108_2157-104del
XM_017011819.1:c.2079-108_2079-104del XP_016867308.1:n.2079-108_2079-104del
XM_017011820.2:c.2052-108_2052-104del XP_016867309.1:n.2052-108_2052-104del
XM_017011821.1:c.1854-108_1854-104del XP_016867310.1:n.1854-108_1854-104del
XM_024446680.1:c.2082-108_2082-104del XP_024302448.1:n.2082-108_2082-104del
XR_001744581.1:n.4570-108_4570-104del
XR_002956413.1:n.5226-108_5226-104del
XR_002956414.1:n.5686-108_5686-104del
NM_001203247.2:c.2181-108_2181-104del NP_001190176.1:n.2181-108_2181-104del
NM_001203248.2:c.2154-108_2154-104del NP_001190177.1:n.2154-108_2154-104del
NM_001203249.2:c.2028-108_2028-104del NP_001190178.1:n.2028-108_2028-104del
NM_004456.5:c.2196-108_2196-104del MANE Select NP_004447.2:n.2196-108_2196-104del
NM_152998.3:c.2064-108_2064-104del NP_694543.1:n.2064-108_2064-104del
Search 100 bp 5'
Search 100 bp 3'