Canonical Allele Identifier: CA2579156960
Gene: EZH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807749_148807757dup , CM000669.2:g.148807749_148807757dup GRCh38
NC_000007.13:g.148504841_148504849dup , CM000669.1:g.148504841_148504849dup GRCh37
NC_000007.12:g.148135774_148135782dup NCBI36
NG_032043.1:g.81594_81602dup , LRG_531:g.81594_81602dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-50_4096-42dup
ENST00000682317.1:c.*1258-50_*1258-42dup ENSP00000508286.1:n.*1258-50_*1258-42dup
ENST00000683292.1:c.*1092-50_*1092-42dup ENSP00000507503.1:n.*1092-50_*1092-42dup
ENST00000683293.1:n.3915-50_3915-42dup
ENST00000683744.1:c.*1258-50_*1258-42dup ENSP00000506949.1:n.*1258-50_*1258-42dup
ENST00000684300.1:c.*1258-50_*1258-42dup ENSP00000508407.1:n.*1258-50_*1258-42dup
ENST00000684400.1:n.4183-50_4183-42dup
ENST00000684436.1:n.2512-50_2512-42dup
ENST00000684510.1:n.2574-50_2574-42dup
ENST00000320356.7:c.2196-50_2196-42dup MANE Select ENSP00000320147.2:n.2196-50_2196-42dup
ENST00000320356.6:c.2196-50_2196-42dup ENSP00000320147.2:n.2196-50_2196-42dup
ENST00000350995.6:c.2064-50_2064-42dup ENSP00000223193.2:n.2064-50_2064-42dup
ENST00000460911.5:c.2181-50_2181-42dup ENSP00000419711.1:n.2181-50_2181-42dup
ENST00000476773.5:c.2028-50_2028-42dup ENSP00000419050.1:n.2028-50_2028-42dup
ENST00000478654.5:c.2028-50_2028-42dup ENSP00000417062.1:n.2028-50_2028-42dup
ENST00000483967.5:c.2154-50_2154-42dup ENSP00000419856.1:n.2154-50_2154-42dup
ENST00000492143.5:c.*2186-50_*2186-42dup ENSP00000417377.1:n.*2186-50_*2186-42dup
NM_001203247.1:c.2181-50_2181-42dup NP_001190176.1:n.2181-50_2181-42dup
NM_001203248.1:c.2154-50_2154-42dup NP_001190177.1:n.2154-50_2154-42dup
NM_001203249.1:c.2028-50_2028-42dup NP_001190178.1:n.2028-50_2028-42dup
NM_004456.4:c.2196-50_2196-42dup , LRG_531t1:c.2196-50_2196-42dup NP_004447.2:n.2196-50_2196-42dup
NM_152998.2:c.2064-50_2064-42dup NP_694543.1:n.2064-50_2064-42dup
XM_005249962.3:c.2205-50_2205-42dup XP_005250019.1:n.2205-50_2205-42dup
XM_005249963.3:c.2178-50_2178-42dup XP_005250020.1:n.2178-50_2178-42dup
XM_005249964.3:c.2052-50_2052-42dup XP_005250021.1:n.2052-50_2052-42dup
XM_011515883.1:c.2220-50_2220-42dup XP_011514185.1:n.2220-50_2220-42dup
XM_011515884.1:c.2196-50_2196-42dup XP_011514186.1:n.2196-50_2196-42dup
XM_011515885.1:c.2193-50_2193-42dup XP_011514187.1:n.2193-50_2193-42dup
XM_011515886.1:c.2172-50_2172-42dup XP_011514188.1:n.2172-50_2172-42dup
XM_011515887.1:c.2169-50_2169-42dup XP_011514189.1:n.2169-50_2169-42dup
XM_011515888.1:c.2169-50_2169-42dup XP_011514190.1:n.2169-50_2169-42dup
XM_011515889.1:c.2130-50_2130-42dup XP_011514191.1:n.2130-50_2130-42dup
XM_011515890.1:c.2103-50_2103-42dup XP_011514192.1:n.2103-50_2103-42dup
XM_011515891.1:c.2097-50_2097-42dup XP_011514193.1:n.2097-50_2097-42dup
XM_011515892.1:c.2094-50_2094-42dup XP_011514194.1:n.2094-50_2094-42dup
XM_011515893.1:c.2088-50_2088-42dup XP_011514195.1:n.2088-50_2088-42dup
XM_011515894.1:c.2079-50_2079-42dup XP_011514196.1:n.2079-50_2079-42dup
XM_011515895.1:c.2076-50_2076-42dup XP_011514197.1:n.2076-50_2076-42dup
XM_011515896.1:c.1962-50_1962-42dup XP_011514198.1:n.1962-50_1962-42dup
XM_011515897.1:c.1869-50_1869-42dup XP_011514199.1:n.1869-50_1869-42dup
XM_011515898.1:c.1869-50_1869-42dup XP_011514200.1:n.1869-50_1869-42dup
XR_928101.1:n.515+2664_515+2672dup
XR_928102.1:n.722+2664_722+2672dup
XM_005249962.4:c.2205-50_2205-42dup XP_005250019.1:n.2205-50_2205-42dup
XM_005249963.4:c.2178-50_2178-42dup XP_005250020.1:n.2178-50_2178-42dup
XM_005249964.4:c.2052-50_2052-42dup XP_005250021.1:n.2052-50_2052-42dup
XM_011515883.2:c.2220-50_2220-42dup XP_011514185.1:n.2220-50_2220-42dup
XM_011515884.2:c.2196-50_2196-42dup XP_011514186.1:n.2196-50_2196-42dup
XM_011515885.2:c.2193-50_2193-42dup XP_011514187.1:n.2193-50_2193-42dup
XM_011515886.2:c.2172-50_2172-42dup XP_011514188.1:n.2172-50_2172-42dup
XM_011515887.3:c.2169-50_2169-42dup XP_011514189.1:n.2169-50_2169-42dup
XM_011515888.2:c.2169-50_2169-42dup XP_011514190.1:n.2169-50_2169-42dup
XM_011515889.2:c.2130-50_2130-42dup XP_011514191.1:n.2130-50_2130-42dup
XM_011515890.2:c.2103-50_2103-42dup XP_011514192.1:n.2103-50_2103-42dup
XM_011515891.3:c.2097-50_2097-42dup XP_011514193.1:n.2097-50_2097-42dup
XM_011515892.2:c.2094-50_2094-42dup XP_011514194.1:n.2094-50_2094-42dup
XM_011515893.2:c.2088-50_2088-42dup XP_011514195.1:n.2088-50_2088-42dup
XM_011515894.2:c.2079-50_2079-42dup XP_011514196.1:n.2079-50_2079-42dup
XM_011515895.2:c.2076-50_2076-42dup XP_011514197.1:n.2076-50_2076-42dup
XM_011515896.2:c.1962-50_1962-42dup XP_011514198.1:n.1962-50_1962-42dup
XM_011515897.2:c.1869-50_1869-42dup XP_011514199.1:n.1869-50_1869-42dup
XM_011515898.2:c.1869-50_1869-42dup XP_011514200.1:n.1869-50_1869-42dup
XM_017011817.2:c.2220-50_2220-42dup XP_016867306.1:n.2220-50_2220-42dup
XM_017011818.1:c.2157-50_2157-42dup XP_016867307.1:n.2157-50_2157-42dup
XM_017011819.1:c.2079-50_2079-42dup XP_016867308.1:n.2079-50_2079-42dup
XM_017011820.2:c.2052-50_2052-42dup XP_016867309.1:n.2052-50_2052-42dup
XM_017011821.1:c.1854-50_1854-42dup XP_016867310.1:n.1854-50_1854-42dup
XM_024446680.1:c.2082-50_2082-42dup XP_024302448.1:n.2082-50_2082-42dup
XR_001744581.1:n.4570-50_4570-42dup
XR_002956413.1:n.5226-50_5226-42dup
XR_002956414.1:n.5686-50_5686-42dup
NM_001203247.2:c.2181-50_2181-42dup NP_001190176.1:n.2181-50_2181-42dup
NM_001203248.2:c.2154-50_2154-42dup NP_001190177.1:n.2154-50_2154-42dup
NM_001203249.2:c.2028-50_2028-42dup NP_001190178.1:n.2028-50_2028-42dup
NM_004456.5:c.2196-50_2196-42dup MANE Select NP_004447.2:n.2196-50_2196-42dup
NM_152998.3:c.2064-50_2064-42dup NP_694543.1:n.2064-50_2064-42dup
Search 100 bp 5'
Search 100 bp 3'