Canonical Allele Identifier: CA1751419484
Gene: EZH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807810_148807811delinsTC , CM000669.2:g.148807810_148807811delinsTC GRCh38
NC_000007.13:g.148504902_148504903delinsTC , CM000669.1:g.148504902_148504903delinsTC GRCh37
NC_000007.12:g.148135835_148135836delinsTC NCBI36
NG_032043.1:g.81539_81540delinsGA , LRG_531:g.81539_81540delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-105_4096-104delinsGA
ENST00000682317.1:c.*1258-105_*1258-104delinsGA ENSP00000508286.1:n.*1258-105_*1258-104delinsGA
ENST00000683292.1:c.*1092-105_*1092-104delinsGA ENSP00000507503.1:n.*1092-105_*1092-104delinsGA
ENST00000683293.1:n.3915-105_3915-104delinsGA
ENST00000683744.1:c.*1258-105_*1258-104delinsGA ENSP00000506949.1:n.*1258-105_*1258-104delinsGA
ENST00000684300.1:c.*1258-105_*1258-104delinsGA ENSP00000508407.1:n.*1258-105_*1258-104delinsGA
ENST00000684400.1:n.4183-105_4183-104delinsGA
ENST00000684436.1:n.2512-105_2512-104delinsGA
ENST00000684510.1:n.2574-105_2574-104delinsGA
ENST00000320356.7:c.2196-105_2196-104delinsGA MANE Select ENSP00000320147.2:n.2196-105_2196-104delinsGA
ENST00000320356.6:c.2196-105_2196-104delinsGA ENSP00000320147.2:n.2196-105_2196-104delinsGA
ENST00000350995.6:c.2064-105_2064-104delinsGA ENSP00000223193.2:n.2064-105_2064-104delinsGA
ENST00000460911.5:c.2181-105_2181-104delinsGA ENSP00000419711.1:n.2181-105_2181-104delinsGA
ENST00000476773.5:c.2028-105_2028-104delinsGA ENSP00000419050.1:n.2028-105_2028-104delinsGA
ENST00000478654.5:c.2028-105_2028-104delinsGA ENSP00000417062.1:n.2028-105_2028-104delinsGA
ENST00000483967.5:c.2154-105_2154-104delinsGA ENSP00000419856.1:n.2154-105_2154-104delinsGA
ENST00000492143.5:c.*2186-105_*2186-104delinsGA ENSP00000417377.1:n.*2186-105_*2186-104delinsGA
NM_001203247.1:c.2181-105_2181-104delinsGA NP_001190176.1:n.2181-105_2181-104delinsGA
NM_001203248.1:c.2154-105_2154-104delinsGA NP_001190177.1:n.2154-105_2154-104delinsGA
NM_001203249.1:c.2028-105_2028-104delinsGA NP_001190178.1:n.2028-105_2028-104delinsGA
NM_004456.4:c.2196-105_2196-104delinsGA , LRG_531t1:c.2196-105_2196-104delinsGA NP_004447.2:n.2196-105_2196-104delinsGA
NM_152998.2:c.2064-105_2064-104delinsGA NP_694543.1:n.2064-105_2064-104delinsGA
XM_005249962.3:c.2205-105_2205-104delinsGA XP_005250019.1:n.2205-105_2205-104delinsGA
XM_005249963.3:c.2178-105_2178-104delinsGA XP_005250020.1:n.2178-105_2178-104delinsGA
XM_005249964.3:c.2052-105_2052-104delinsGA XP_005250021.1:n.2052-105_2052-104delinsGA
XM_011515883.1:c.2220-105_2220-104delinsGA XP_011514185.1:n.2220-105_2220-104delinsGA
XM_011515884.1:c.2196-105_2196-104delinsGA XP_011514186.1:n.2196-105_2196-104delinsGA
XM_011515885.1:c.2193-105_2193-104delinsGA XP_011514187.1:n.2193-105_2193-104delinsGA
XM_011515886.1:c.2172-105_2172-104delinsGA XP_011514188.1:n.2172-105_2172-104delinsGA
XM_011515887.1:c.2169-105_2169-104delinsGA XP_011514189.1:n.2169-105_2169-104delinsGA
XM_011515888.1:c.2169-105_2169-104delinsGA XP_011514190.1:n.2169-105_2169-104delinsGA
XM_011515889.1:c.2130-105_2130-104delinsGA XP_011514191.1:n.2130-105_2130-104delinsGA
XM_011515890.1:c.2103-105_2103-104delinsGA XP_011514192.1:n.2103-105_2103-104delinsGA
XM_011515891.1:c.2097-105_2097-104delinsGA XP_011514193.1:n.2097-105_2097-104delinsGA
XM_011515892.1:c.2094-105_2094-104delinsGA XP_011514194.1:n.2094-105_2094-104delinsGA
XM_011515893.1:c.2088-105_2088-104delinsGA XP_011514195.1:n.2088-105_2088-104delinsGA
XM_011515894.1:c.2079-105_2079-104delinsGA XP_011514196.1:n.2079-105_2079-104delinsGA
XM_011515895.1:c.2076-105_2076-104delinsGA XP_011514197.1:n.2076-105_2076-104delinsGA
XM_011515896.1:c.1962-105_1962-104delinsGA XP_011514198.1:n.1962-105_1962-104delinsGA
XM_011515897.1:c.1869-105_1869-104delinsGA XP_011514199.1:n.1869-105_1869-104delinsGA
XM_011515898.1:c.1869-105_1869-104delinsGA XP_011514200.1:n.1869-105_1869-104delinsGA
XR_928101.1:n.515+2725_515+2726delinsTC
XR_928102.1:n.722+2725_722+2726delinsTC
XM_005249962.4:c.2205-105_2205-104delinsGA XP_005250019.1:n.2205-105_2205-104delinsGA
XM_005249963.4:c.2178-105_2178-104delinsGA XP_005250020.1:n.2178-105_2178-104delinsGA
XM_005249964.4:c.2052-105_2052-104delinsGA XP_005250021.1:n.2052-105_2052-104delinsGA
XM_011515883.2:c.2220-105_2220-104delinsGA XP_011514185.1:n.2220-105_2220-104delinsGA
XM_011515884.2:c.2196-105_2196-104delinsGA XP_011514186.1:n.2196-105_2196-104delinsGA
XM_011515885.2:c.2193-105_2193-104delinsGA XP_011514187.1:n.2193-105_2193-104delinsGA
XM_011515886.2:c.2172-105_2172-104delinsGA XP_011514188.1:n.2172-105_2172-104delinsGA
XM_011515887.3:c.2169-105_2169-104delinsGA XP_011514189.1:n.2169-105_2169-104delinsGA
XM_011515888.2:c.2169-105_2169-104delinsGA XP_011514190.1:n.2169-105_2169-104delinsGA
XM_011515889.2:c.2130-105_2130-104delinsGA XP_011514191.1:n.2130-105_2130-104delinsGA
XM_011515890.2:c.2103-105_2103-104delinsGA XP_011514192.1:n.2103-105_2103-104delinsGA
XM_011515891.3:c.2097-105_2097-104delinsGA XP_011514193.1:n.2097-105_2097-104delinsGA
XM_011515892.2:c.2094-105_2094-104delinsGA XP_011514194.1:n.2094-105_2094-104delinsGA
XM_011515893.2:c.2088-105_2088-104delinsGA XP_011514195.1:n.2088-105_2088-104delinsGA
XM_011515894.2:c.2079-105_2079-104delinsGA XP_011514196.1:n.2079-105_2079-104delinsGA
XM_011515895.2:c.2076-105_2076-104delinsGA XP_011514197.1:n.2076-105_2076-104delinsGA
XM_011515896.2:c.1962-105_1962-104delinsGA XP_011514198.1:n.1962-105_1962-104delinsGA
XM_011515897.2:c.1869-105_1869-104delinsGA XP_011514199.1:n.1869-105_1869-104delinsGA
XM_011515898.2:c.1869-105_1869-104delinsGA XP_011514200.1:n.1869-105_1869-104delinsGA
XM_017011817.2:c.2220-105_2220-104delinsGA XP_016867306.1:n.2220-105_2220-104delinsGA
XM_017011818.1:c.2157-105_2157-104delinsGA XP_016867307.1:n.2157-105_2157-104delinsGA
XM_017011819.1:c.2079-105_2079-104delinsGA XP_016867308.1:n.2079-105_2079-104delinsGA
XM_017011820.2:c.2052-105_2052-104delinsGA XP_016867309.1:n.2052-105_2052-104delinsGA
XM_017011821.1:c.1854-105_1854-104delinsGA XP_016867310.1:n.1854-105_1854-104delinsGA
XM_024446680.1:c.2082-105_2082-104delinsGA XP_024302448.1:n.2082-105_2082-104delinsGA
XR_001744581.1:n.4570-105_4570-104delinsGA
XR_002956413.1:n.5226-105_5226-104delinsGA
XR_002956414.1:n.5686-105_5686-104delinsGA
NM_001203247.2:c.2181-105_2181-104delinsGA NP_001190176.1:n.2181-105_2181-104delinsGA
NM_001203248.2:c.2154-105_2154-104delinsGA NP_001190177.1:n.2154-105_2154-104delinsGA
NM_001203249.2:c.2028-105_2028-104delinsGA NP_001190178.1:n.2028-105_2028-104delinsGA
NM_004456.5:c.2196-105_2196-104delinsGA MANE Select NP_004447.2:n.2196-105_2196-104delinsGA
NM_152998.3:c.2064-105_2064-104delinsGA NP_694543.1:n.2064-105_2064-104delinsGA
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