Canonical Allele Identifier: CA2685464243
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807763-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807763_148807764insC , CM000669.2:g.148807763_148807764insC GRCh38
NC_000007.13:g.148504855_148504856insC , CM000669.1:g.148504855_148504856insC GRCh37
NC_000007.12:g.148135788_148135789insC NCBI36
NG_032043.1:g.81586_81587insG , LRG_531:g.81586_81587insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-58_4096-57insG
ENST00000682317.1:c.*1258-58_*1258-57insG ENSP00000508286.1:n.*1258-58_*1258-57insG
ENST00000683292.1:c.*1092-58_*1092-57insG ENSP00000507503.1:n.*1092-58_*1092-57insG
ENST00000683293.1:n.3915-58_3915-57insG
ENST00000683744.1:c.*1258-58_*1258-57insG ENSP00000506949.1:n.*1258-58_*1258-57insG
ENST00000684300.1:c.*1258-58_*1258-57insG ENSP00000508407.1:n.*1258-58_*1258-57insG
ENST00000684400.1:n.4183-58_4183-57insG
ENST00000684436.1:n.2512-58_2512-57insG
ENST00000684510.1:n.2574-58_2574-57insG
ENST00000320356.7:c.2196-58_2196-57insG MANE Select ENSP00000320147.2:n.2196-58_2196-57insG
ENST00000320356.6:c.2196-58_2196-57insG ENSP00000320147.2:n.2196-58_2196-57insG
ENST00000350995.6:c.2064-58_2064-57insG ENSP00000223193.2:n.2064-58_2064-57insG
ENST00000460911.5:c.2181-58_2181-57insG ENSP00000419711.1:n.2181-58_2181-57insG
ENST00000476773.5:c.2028-58_2028-57insG ENSP00000419050.1:n.2028-58_2028-57insG
ENST00000478654.5:c.2028-58_2028-57insG ENSP00000417062.1:n.2028-58_2028-57insG
ENST00000483967.5:c.2154-58_2154-57insG ENSP00000419856.1:n.2154-58_2154-57insG
ENST00000492143.5:c.*2186-58_*2186-57insG ENSP00000417377.1:n.*2186-58_*2186-57insG
NM_001203247.1:c.2181-58_2181-57insG NP_001190176.1:n.2181-58_2181-57insG
NM_001203248.1:c.2154-58_2154-57insG NP_001190177.1:n.2154-58_2154-57insG
NM_001203249.1:c.2028-58_2028-57insG NP_001190178.1:n.2028-58_2028-57insG
NM_004456.4:c.2196-58_2196-57insG , LRG_531t1:c.2196-58_2196-57insG NP_004447.2:n.2196-58_2196-57insG
NM_152998.2:c.2064-58_2064-57insG NP_694543.1:n.2064-58_2064-57insG
XM_005249962.3:c.2205-58_2205-57insG XP_005250019.1:n.2205-58_2205-57insG
XM_005249963.3:c.2178-58_2178-57insG XP_005250020.1:n.2178-58_2178-57insG
XM_005249964.3:c.2052-58_2052-57insG XP_005250021.1:n.2052-58_2052-57insG
XM_011515883.1:c.2220-58_2220-57insG XP_011514185.1:n.2220-58_2220-57insG
XM_011515884.1:c.2196-58_2196-57insG XP_011514186.1:n.2196-58_2196-57insG
XM_011515885.1:c.2193-58_2193-57insG XP_011514187.1:n.2193-58_2193-57insG
XM_011515886.1:c.2172-58_2172-57insG XP_011514188.1:n.2172-58_2172-57insG
XM_011515887.1:c.2169-58_2169-57insG XP_011514189.1:n.2169-58_2169-57insG
XM_011515888.1:c.2169-58_2169-57insG XP_011514190.1:n.2169-58_2169-57insG
XM_011515889.1:c.2130-58_2130-57insG XP_011514191.1:n.2130-58_2130-57insG
XM_011515890.1:c.2103-58_2103-57insG XP_011514192.1:n.2103-58_2103-57insG
XM_011515891.1:c.2097-58_2097-57insG XP_011514193.1:n.2097-58_2097-57insG
XM_011515892.1:c.2094-58_2094-57insG XP_011514194.1:n.2094-58_2094-57insG
XM_011515893.1:c.2088-58_2088-57insG XP_011514195.1:n.2088-58_2088-57insG
XM_011515894.1:c.2079-58_2079-57insG XP_011514196.1:n.2079-58_2079-57insG
XM_011515895.1:c.2076-58_2076-57insG XP_011514197.1:n.2076-58_2076-57insG
XM_011515896.1:c.1962-58_1962-57insG XP_011514198.1:n.1962-58_1962-57insG
XM_011515897.1:c.1869-58_1869-57insG XP_011514199.1:n.1869-58_1869-57insG
XM_011515898.1:c.1869-58_1869-57insG XP_011514200.1:n.1869-58_1869-57insG
XR_928101.1:n.515+2678_515+2679insC
XR_928102.1:n.722+2678_722+2679insC
XM_005249962.4:c.2205-58_2205-57insG XP_005250019.1:n.2205-58_2205-57insG
XM_005249963.4:c.2178-58_2178-57insG XP_005250020.1:n.2178-58_2178-57insG
XM_005249964.4:c.2052-58_2052-57insG XP_005250021.1:n.2052-58_2052-57insG
XM_011515883.2:c.2220-58_2220-57insG XP_011514185.1:n.2220-58_2220-57insG
XM_011515884.2:c.2196-58_2196-57insG XP_011514186.1:n.2196-58_2196-57insG
XM_011515885.2:c.2193-58_2193-57insG XP_011514187.1:n.2193-58_2193-57insG
XM_011515886.2:c.2172-58_2172-57insG XP_011514188.1:n.2172-58_2172-57insG
XM_011515887.3:c.2169-58_2169-57insG XP_011514189.1:n.2169-58_2169-57insG
XM_011515888.2:c.2169-58_2169-57insG XP_011514190.1:n.2169-58_2169-57insG
XM_011515889.2:c.2130-58_2130-57insG XP_011514191.1:n.2130-58_2130-57insG
XM_011515890.2:c.2103-58_2103-57insG XP_011514192.1:n.2103-58_2103-57insG
XM_011515891.3:c.2097-58_2097-57insG XP_011514193.1:n.2097-58_2097-57insG
XM_011515892.2:c.2094-58_2094-57insG XP_011514194.1:n.2094-58_2094-57insG
XM_011515893.2:c.2088-58_2088-57insG XP_011514195.1:n.2088-58_2088-57insG
XM_011515894.2:c.2079-58_2079-57insG XP_011514196.1:n.2079-58_2079-57insG
XM_011515895.2:c.2076-58_2076-57insG XP_011514197.1:n.2076-58_2076-57insG
XM_011515896.2:c.1962-58_1962-57insG XP_011514198.1:n.1962-58_1962-57insG
XM_011515897.2:c.1869-58_1869-57insG XP_011514199.1:n.1869-58_1869-57insG
XM_011515898.2:c.1869-58_1869-57insG XP_011514200.1:n.1869-58_1869-57insG
XM_017011817.2:c.2220-58_2220-57insG XP_016867306.1:n.2220-58_2220-57insG
XM_017011818.1:c.2157-58_2157-57insG XP_016867307.1:n.2157-58_2157-57insG
XM_017011819.1:c.2079-58_2079-57insG XP_016867308.1:n.2079-58_2079-57insG
XM_017011820.2:c.2052-58_2052-57insG XP_016867309.1:n.2052-58_2052-57insG
XM_017011821.1:c.1854-58_1854-57insG XP_016867310.1:n.1854-58_1854-57insG
XM_024446680.1:c.2082-58_2082-57insG XP_024302448.1:n.2082-58_2082-57insG
XR_001744581.1:n.4570-58_4570-57insG
XR_002956413.1:n.5226-58_5226-57insG
XR_002956414.1:n.5686-58_5686-57insG
NM_001203247.2:c.2181-58_2181-57insG NP_001190176.1:n.2181-58_2181-57insG
NM_001203248.2:c.2154-58_2154-57insG NP_001190177.1:n.2154-58_2154-57insG
NM_001203249.2:c.2028-58_2028-57insG NP_001190178.1:n.2028-58_2028-57insG
NM_004456.5:c.2196-58_2196-57insG MANE Select NP_004447.2:n.2196-58_2196-57insG
NM_152998.3:c.2064-58_2064-57insG NP_694543.1:n.2064-58_2064-57insG
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