Canonical Allele Identifier: CA2685464337
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807815-A-ATT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807815_148807816insTT , CM000669.2:g.148807815_148807816insTT GRCh38
NC_000007.13:g.148504907_148504908insTT , CM000669.1:g.148504907_148504908insTT GRCh37
NC_000007.12:g.148135840_148135841insTT NCBI36
NG_032043.1:g.81534_81535insAA , LRG_531:g.81534_81535insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-110_4096-109insAA
ENST00000682317.1:c.*1258-110_*1258-109insAA ENSP00000508286.1:n.*1258-110_*1258-109insAA
ENST00000683292.1:c.*1092-110_*1092-109insAA ENSP00000507503.1:n.*1092-110_*1092-109insAA
ENST00000683293.1:n.3915-110_3915-109insAA
ENST00000683744.1:c.*1258-110_*1258-109insAA ENSP00000506949.1:n.*1258-110_*1258-109insAA
ENST00000684300.1:c.*1258-110_*1258-109insAA ENSP00000508407.1:n.*1258-110_*1258-109insAA
ENST00000684400.1:n.4183-110_4183-109insAA
ENST00000684436.1:n.2512-110_2512-109insAA
ENST00000684510.1:n.2574-110_2574-109insAA
ENST00000320356.7:c.2196-110_2196-109insAA MANE Select ENSP00000320147.2:n.2196-110_2196-109insAA
ENST00000320356.6:c.2196-110_2196-109insAA ENSP00000320147.2:n.2196-110_2196-109insAA
ENST00000350995.6:c.2064-110_2064-109insAA ENSP00000223193.2:n.2064-110_2064-109insAA
ENST00000460911.5:c.2181-110_2181-109insAA ENSP00000419711.1:n.2181-110_2181-109insAA
ENST00000476773.5:c.2028-110_2028-109insAA ENSP00000419050.1:n.2028-110_2028-109insAA
ENST00000478654.5:c.2028-110_2028-109insAA ENSP00000417062.1:n.2028-110_2028-109insAA
ENST00000483967.5:c.2154-110_2154-109insAA ENSP00000419856.1:n.2154-110_2154-109insAA
ENST00000492143.5:c.*2186-110_*2186-109insAA ENSP00000417377.1:n.*2186-110_*2186-109insAA
NM_001203247.1:c.2181-110_2181-109insAA NP_001190176.1:n.2181-110_2181-109insAA
NM_001203248.1:c.2154-110_2154-109insAA NP_001190177.1:n.2154-110_2154-109insAA
NM_001203249.1:c.2028-110_2028-109insAA NP_001190178.1:n.2028-110_2028-109insAA
NM_004456.4:c.2196-110_2196-109insAA , LRG_531t1:c.2196-110_2196-109insAA NP_004447.2:n.2196-110_2196-109insAA
NM_152998.2:c.2064-110_2064-109insAA NP_694543.1:n.2064-110_2064-109insAA
XM_005249962.3:c.2205-110_2205-109insAA XP_005250019.1:n.2205-110_2205-109insAA
XM_005249963.3:c.2178-110_2178-109insAA XP_005250020.1:n.2178-110_2178-109insAA
XM_005249964.3:c.2052-110_2052-109insAA XP_005250021.1:n.2052-110_2052-109insAA
XM_011515883.1:c.2220-110_2220-109insAA XP_011514185.1:n.2220-110_2220-109insAA
XM_011515884.1:c.2196-110_2196-109insAA XP_011514186.1:n.2196-110_2196-109insAA
XM_011515885.1:c.2193-110_2193-109insAA XP_011514187.1:n.2193-110_2193-109insAA
XM_011515886.1:c.2172-110_2172-109insAA XP_011514188.1:n.2172-110_2172-109insAA
XM_011515887.1:c.2169-110_2169-109insAA XP_011514189.1:n.2169-110_2169-109insAA
XM_011515888.1:c.2169-110_2169-109insAA XP_011514190.1:n.2169-110_2169-109insAA
XM_011515889.1:c.2130-110_2130-109insAA XP_011514191.1:n.2130-110_2130-109insAA
XM_011515890.1:c.2103-110_2103-109insAA XP_011514192.1:n.2103-110_2103-109insAA
XM_011515891.1:c.2097-110_2097-109insAA XP_011514193.1:n.2097-110_2097-109insAA
XM_011515892.1:c.2094-110_2094-109insAA XP_011514194.1:n.2094-110_2094-109insAA
XM_011515893.1:c.2088-110_2088-109insAA XP_011514195.1:n.2088-110_2088-109insAA
XM_011515894.1:c.2079-110_2079-109insAA XP_011514196.1:n.2079-110_2079-109insAA
XM_011515895.1:c.2076-110_2076-109insAA XP_011514197.1:n.2076-110_2076-109insAA
XM_011515896.1:c.1962-110_1962-109insAA XP_011514198.1:n.1962-110_1962-109insAA
XM_011515897.1:c.1869-110_1869-109insAA XP_011514199.1:n.1869-110_1869-109insAA
XM_011515898.1:c.1869-110_1869-109insAA XP_011514200.1:n.1869-110_1869-109insAA
XR_928101.1:n.515+2730_515+2731insTT
XR_928102.1:n.722+2730_722+2731insTT
XM_005249962.4:c.2205-110_2205-109insAA XP_005250019.1:n.2205-110_2205-109insAA
XM_005249963.4:c.2178-110_2178-109insAA XP_005250020.1:n.2178-110_2178-109insAA
XM_005249964.4:c.2052-110_2052-109insAA XP_005250021.1:n.2052-110_2052-109insAA
XM_011515883.2:c.2220-110_2220-109insAA XP_011514185.1:n.2220-110_2220-109insAA
XM_011515884.2:c.2196-110_2196-109insAA XP_011514186.1:n.2196-110_2196-109insAA
XM_011515885.2:c.2193-110_2193-109insAA XP_011514187.1:n.2193-110_2193-109insAA
XM_011515886.2:c.2172-110_2172-109insAA XP_011514188.1:n.2172-110_2172-109insAA
XM_011515887.3:c.2169-110_2169-109insAA XP_011514189.1:n.2169-110_2169-109insAA
XM_011515888.2:c.2169-110_2169-109insAA XP_011514190.1:n.2169-110_2169-109insAA
XM_011515889.2:c.2130-110_2130-109insAA XP_011514191.1:n.2130-110_2130-109insAA
XM_011515890.2:c.2103-110_2103-109insAA XP_011514192.1:n.2103-110_2103-109insAA
XM_011515891.3:c.2097-110_2097-109insAA XP_011514193.1:n.2097-110_2097-109insAA
XM_011515892.2:c.2094-110_2094-109insAA XP_011514194.1:n.2094-110_2094-109insAA
XM_011515893.2:c.2088-110_2088-109insAA XP_011514195.1:n.2088-110_2088-109insAA
XM_011515894.2:c.2079-110_2079-109insAA XP_011514196.1:n.2079-110_2079-109insAA
XM_011515895.2:c.2076-110_2076-109insAA XP_011514197.1:n.2076-110_2076-109insAA
XM_011515896.2:c.1962-110_1962-109insAA XP_011514198.1:n.1962-110_1962-109insAA
XM_011515897.2:c.1869-110_1869-109insAA XP_011514199.1:n.1869-110_1869-109insAA
XM_011515898.2:c.1869-110_1869-109insAA XP_011514200.1:n.1869-110_1869-109insAA
XM_017011817.2:c.2220-110_2220-109insAA XP_016867306.1:n.2220-110_2220-109insAA
XM_017011818.1:c.2157-110_2157-109insAA XP_016867307.1:n.2157-110_2157-109insAA
XM_017011819.1:c.2079-110_2079-109insAA XP_016867308.1:n.2079-110_2079-109insAA
XM_017011820.2:c.2052-110_2052-109insAA XP_016867309.1:n.2052-110_2052-109insAA
XM_017011821.1:c.1854-110_1854-109insAA XP_016867310.1:n.1854-110_1854-109insAA
XM_024446680.1:c.2082-110_2082-109insAA XP_024302448.1:n.2082-110_2082-109insAA
XR_001744581.1:n.4570-110_4570-109insAA
XR_002956413.1:n.5226-110_5226-109insAA
XR_002956414.1:n.5686-110_5686-109insAA
NM_001203247.2:c.2181-110_2181-109insAA NP_001190176.1:n.2181-110_2181-109insAA
NM_001203248.2:c.2154-110_2154-109insAA NP_001190177.1:n.2154-110_2154-109insAA
NM_001203249.2:c.2028-110_2028-109insAA NP_001190178.1:n.2028-110_2028-109insAA
NM_004456.5:c.2196-110_2196-109insAA MANE Select NP_004447.2:n.2196-110_2196-109insAA
NM_152998.3:c.2064-110_2064-109insAA NP_694543.1:n.2064-110_2064-109insAA
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