Canonical Allele Identifier: CA2685464235
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807762-A-AGCCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807763_148807764insCCTTG , CM000669.2:g.148807763_148807764insCCTTG GRCh38
NC_000007.13:g.148504855_148504856insCCTTG , CM000669.1:g.148504855_148504856insCCTTG GRCh37
NC_000007.12:g.148135788_148135789insCCTTG NCBI36
NG_032043.1:g.81587_81588insAAGGC , LRG_531:g.81587_81588insAAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-57_4096-56insAAGGC
ENST00000682317.1:c.*1258-57_*1258-56insAAGGC ENSP00000508286.1:n.*1258-57_*1258-56insAAGGC
ENST00000683292.1:c.*1092-57_*1092-56insAAGGC ENSP00000507503.1:n.*1092-57_*1092-56insAAGGC
ENST00000683293.1:n.3915-57_3915-56insAAGGC
ENST00000683744.1:c.*1258-57_*1258-56insAAGGC ENSP00000506949.1:n.*1258-57_*1258-56insAAGGC
ENST00000684300.1:c.*1258-57_*1258-56insAAGGC ENSP00000508407.1:n.*1258-57_*1258-56insAAGGC
ENST00000684400.1:n.4183-57_4183-56insAAGGC
ENST00000684436.1:n.2512-57_2512-56insAAGGC
ENST00000684510.1:n.2574-57_2574-56insAAGGC
ENST00000320356.7:c.2196-57_2196-56insAAGGC MANE Select ENSP00000320147.2:n.2196-57_2196-56insAAGGC
ENST00000320356.6:c.2196-57_2196-56insAAGGC ENSP00000320147.2:n.2196-57_2196-56insAAGGC
ENST00000350995.6:c.2064-57_2064-56insAAGGC ENSP00000223193.2:n.2064-57_2064-56insAAGGC
ENST00000460911.5:c.2181-57_2181-56insAAGGC ENSP00000419711.1:n.2181-57_2181-56insAAGGC
ENST00000476773.5:c.2028-57_2028-56insAAGGC ENSP00000419050.1:n.2028-57_2028-56insAAGGC
ENST00000478654.5:c.2028-57_2028-56insAAGGC ENSP00000417062.1:n.2028-57_2028-56insAAGGC
ENST00000483967.5:c.2154-57_2154-56insAAGGC ENSP00000419856.1:n.2154-57_2154-56insAAGGC
ENST00000492143.5:c.*2186-57_*2186-56insAAGGC ENSP00000417377.1:n.*2186-57_*2186-56insAAGGC
NM_001203247.1:c.2181-57_2181-56insAAGGC NP_001190176.1:n.2181-57_2181-56insAAGGC
NM_001203248.1:c.2154-57_2154-56insAAGGC NP_001190177.1:n.2154-57_2154-56insAAGGC
NM_001203249.1:c.2028-57_2028-56insAAGGC NP_001190178.1:n.2028-57_2028-56insAAGGC
NM_004456.4:c.2196-57_2196-56insAAGGC , LRG_531t1:c.2196-57_2196-56insAAGGC NP_004447.2:n.2196-57_2196-56insAAGGC
NM_152998.2:c.2064-57_2064-56insAAGGC NP_694543.1:n.2064-57_2064-56insAAGGC
XM_005249962.3:c.2205-57_2205-56insAAGGC XP_005250019.1:n.2205-57_2205-56insAAGGC
XM_005249963.3:c.2178-57_2178-56insAAGGC XP_005250020.1:n.2178-57_2178-56insAAGGC
XM_005249964.3:c.2052-57_2052-56insAAGGC XP_005250021.1:n.2052-57_2052-56insAAGGC
XM_011515883.1:c.2220-57_2220-56insAAGGC XP_011514185.1:n.2220-57_2220-56insAAGGC
XM_011515884.1:c.2196-57_2196-56insAAGGC XP_011514186.1:n.2196-57_2196-56insAAGGC
XM_011515885.1:c.2193-57_2193-56insAAGGC XP_011514187.1:n.2193-57_2193-56insAAGGC
XM_011515886.1:c.2172-57_2172-56insAAGGC XP_011514188.1:n.2172-57_2172-56insAAGGC
XM_011515887.1:c.2169-57_2169-56insAAGGC XP_011514189.1:n.2169-57_2169-56insAAGGC
XM_011515888.1:c.2169-57_2169-56insAAGGC XP_011514190.1:n.2169-57_2169-56insAAGGC
XM_011515889.1:c.2130-57_2130-56insAAGGC XP_011514191.1:n.2130-57_2130-56insAAGGC
XM_011515890.1:c.2103-57_2103-56insAAGGC XP_011514192.1:n.2103-57_2103-56insAAGGC
XM_011515891.1:c.2097-57_2097-56insAAGGC XP_011514193.1:n.2097-57_2097-56insAAGGC
XM_011515892.1:c.2094-57_2094-56insAAGGC XP_011514194.1:n.2094-57_2094-56insAAGGC
XM_011515893.1:c.2088-57_2088-56insAAGGC XP_011514195.1:n.2088-57_2088-56insAAGGC
XM_011515894.1:c.2079-57_2079-56insAAGGC XP_011514196.1:n.2079-57_2079-56insAAGGC
XM_011515895.1:c.2076-57_2076-56insAAGGC XP_011514197.1:n.2076-57_2076-56insAAGGC
XM_011515896.1:c.1962-57_1962-56insAAGGC XP_011514198.1:n.1962-57_1962-56insAAGGC
XM_011515897.1:c.1869-57_1869-56insAAGGC XP_011514199.1:n.1869-57_1869-56insAAGGC
XM_011515898.1:c.1869-57_1869-56insAAGGC XP_011514200.1:n.1869-57_1869-56insAAGGC
XR_928101.1:n.515+2678_515+2679insCCTTG
XR_928102.1:n.722+2678_722+2679insCCTTG
XM_005249962.4:c.2205-57_2205-56insAAGGC XP_005250019.1:n.2205-57_2205-56insAAGGC
XM_005249963.4:c.2178-57_2178-56insAAGGC XP_005250020.1:n.2178-57_2178-56insAAGGC
XM_005249964.4:c.2052-57_2052-56insAAGGC XP_005250021.1:n.2052-57_2052-56insAAGGC
XM_011515883.2:c.2220-57_2220-56insAAGGC XP_011514185.1:n.2220-57_2220-56insAAGGC
XM_011515884.2:c.2196-57_2196-56insAAGGC XP_011514186.1:n.2196-57_2196-56insAAGGC
XM_011515885.2:c.2193-57_2193-56insAAGGC XP_011514187.1:n.2193-57_2193-56insAAGGC
XM_011515886.2:c.2172-57_2172-56insAAGGC XP_011514188.1:n.2172-57_2172-56insAAGGC
XM_011515887.3:c.2169-57_2169-56insAAGGC XP_011514189.1:n.2169-57_2169-56insAAGGC
XM_011515888.2:c.2169-57_2169-56insAAGGC XP_011514190.1:n.2169-57_2169-56insAAGGC
XM_011515889.2:c.2130-57_2130-56insAAGGC XP_011514191.1:n.2130-57_2130-56insAAGGC
XM_011515890.2:c.2103-57_2103-56insAAGGC XP_011514192.1:n.2103-57_2103-56insAAGGC
XM_011515891.3:c.2097-57_2097-56insAAGGC XP_011514193.1:n.2097-57_2097-56insAAGGC
XM_011515892.2:c.2094-57_2094-56insAAGGC XP_011514194.1:n.2094-57_2094-56insAAGGC
XM_011515893.2:c.2088-57_2088-56insAAGGC XP_011514195.1:n.2088-57_2088-56insAAGGC
XM_011515894.2:c.2079-57_2079-56insAAGGC XP_011514196.1:n.2079-57_2079-56insAAGGC
XM_011515895.2:c.2076-57_2076-56insAAGGC XP_011514197.1:n.2076-57_2076-56insAAGGC
XM_011515896.2:c.1962-57_1962-56insAAGGC XP_011514198.1:n.1962-57_1962-56insAAGGC
XM_011515897.2:c.1869-57_1869-56insAAGGC XP_011514199.1:n.1869-57_1869-56insAAGGC
XM_011515898.2:c.1869-57_1869-56insAAGGC XP_011514200.1:n.1869-57_1869-56insAAGGC
XM_017011817.2:c.2220-57_2220-56insAAGGC XP_016867306.1:n.2220-57_2220-56insAAGGC
XM_017011818.1:c.2157-57_2157-56insAAGGC XP_016867307.1:n.2157-57_2157-56insAAGGC
XM_017011819.1:c.2079-57_2079-56insAAGGC XP_016867308.1:n.2079-57_2079-56insAAGGC
XM_017011820.2:c.2052-57_2052-56insAAGGC XP_016867309.1:n.2052-57_2052-56insAAGGC
XM_017011821.1:c.1854-57_1854-56insAAGGC XP_016867310.1:n.1854-57_1854-56insAAGGC
XM_024446680.1:c.2082-57_2082-56insAAGGC XP_024302448.1:n.2082-57_2082-56insAAGGC
XR_001744581.1:n.4570-57_4570-56insAAGGC
XR_002956413.1:n.5226-57_5226-56insAAGGC
XR_002956414.1:n.5686-57_5686-56insAAGGC
NM_001203247.2:c.2181-57_2181-56insAAGGC NP_001190176.1:n.2181-57_2181-56insAAGGC
NM_001203248.2:c.2154-57_2154-56insAAGGC NP_001190177.1:n.2154-57_2154-56insAAGGC
NM_001203249.2:c.2028-57_2028-56insAAGGC NP_001190178.1:n.2028-57_2028-56insAAGGC
NM_004456.5:c.2196-57_2196-56insAAGGC MANE Select NP_004447.2:n.2196-57_2196-56insAAGGC
NM_152998.3:c.2064-57_2064-56insAAGGC NP_694543.1:n.2064-57_2064-56insAAGGC
Search 100 bp 5'
Search 100 bp 3'