Canonical Allele Identifier: CA2685464329
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807813-TTAAAAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807814_148807819del , CM000669.2:g.148807814_148807819del GRCh38
NC_000007.13:g.148504906_148504911del , CM000669.1:g.148504906_148504911del GRCh37
NC_000007.12:g.148135839_148135844del NCBI36
NG_032043.1:g.81531_81536del , LRG_531:g.81531_81536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-113_4096-108del
ENST00000682317.1:c.*1258-113_*1258-108del ENSP00000508286.1:n.*1258-113_*1258-108del
ENST00000683292.1:c.*1092-113_*1092-108del ENSP00000507503.1:n.*1092-113_*1092-108del
ENST00000683293.1:n.3915-113_3915-108del
ENST00000683744.1:c.*1258-113_*1258-108del ENSP00000506949.1:n.*1258-113_*1258-108del
ENST00000684300.1:c.*1258-113_*1258-108del ENSP00000508407.1:n.*1258-113_*1258-108del
ENST00000684400.1:n.4183-113_4183-108del
ENST00000684436.1:n.2512-113_2512-108del
ENST00000684510.1:n.2574-113_2574-108del
ENST00000320356.7:c.2196-113_2196-108del MANE Select ENSP00000320147.2:n.2196-113_2196-108del
ENST00000320356.6:c.2196-113_2196-108del ENSP00000320147.2:n.2196-113_2196-108del
ENST00000350995.6:c.2064-113_2064-108del ENSP00000223193.2:n.2064-113_2064-108del
ENST00000460911.5:c.2181-113_2181-108del ENSP00000419711.1:n.2181-113_2181-108del
ENST00000476773.5:c.2028-113_2028-108del ENSP00000419050.1:n.2028-113_2028-108del
ENST00000478654.5:c.2028-113_2028-108del ENSP00000417062.1:n.2028-113_2028-108del
ENST00000483967.5:c.2154-113_2154-108del ENSP00000419856.1:n.2154-113_2154-108del
ENST00000492143.5:c.*2186-113_*2186-108del ENSP00000417377.1:n.*2186-113_*2186-108del
NM_001203247.1:c.2181-113_2181-108del NP_001190176.1:n.2181-113_2181-108del
NM_001203248.1:c.2154-113_2154-108del NP_001190177.1:n.2154-113_2154-108del
NM_001203249.1:c.2028-113_2028-108del NP_001190178.1:n.2028-113_2028-108del
NM_004456.4:c.2196-113_2196-108del , LRG_531t1:c.2196-113_2196-108del NP_004447.2:n.2196-113_2196-108del
NM_152998.2:c.2064-113_2064-108del NP_694543.1:n.2064-113_2064-108del
XM_005249962.3:c.2205-113_2205-108del XP_005250019.1:n.2205-113_2205-108del
XM_005249963.3:c.2178-113_2178-108del XP_005250020.1:n.2178-113_2178-108del
XM_005249964.3:c.2052-113_2052-108del XP_005250021.1:n.2052-113_2052-108del
XM_011515883.1:c.2220-113_2220-108del XP_011514185.1:n.2220-113_2220-108del
XM_011515884.1:c.2196-113_2196-108del XP_011514186.1:n.2196-113_2196-108del
XM_011515885.1:c.2193-113_2193-108del XP_011514187.1:n.2193-113_2193-108del
XM_011515886.1:c.2172-113_2172-108del XP_011514188.1:n.2172-113_2172-108del
XM_011515887.1:c.2169-113_2169-108del XP_011514189.1:n.2169-113_2169-108del
XM_011515888.1:c.2169-113_2169-108del XP_011514190.1:n.2169-113_2169-108del
XM_011515889.1:c.2130-113_2130-108del XP_011514191.1:n.2130-113_2130-108del
XM_011515890.1:c.2103-113_2103-108del XP_011514192.1:n.2103-113_2103-108del
XM_011515891.1:c.2097-113_2097-108del XP_011514193.1:n.2097-113_2097-108del
XM_011515892.1:c.2094-113_2094-108del XP_011514194.1:n.2094-113_2094-108del
XM_011515893.1:c.2088-113_2088-108del XP_011514195.1:n.2088-113_2088-108del
XM_011515894.1:c.2079-113_2079-108del XP_011514196.1:n.2079-113_2079-108del
XM_011515895.1:c.2076-113_2076-108del XP_011514197.1:n.2076-113_2076-108del
XM_011515896.1:c.1962-113_1962-108del XP_011514198.1:n.1962-113_1962-108del
XM_011515897.1:c.1869-113_1869-108del XP_011514199.1:n.1869-113_1869-108del
XM_011515898.1:c.1869-113_1869-108del XP_011514200.1:n.1869-113_1869-108del
XR_928101.1:n.515+2729_515+2734del
XR_928102.1:n.722+2729_722+2734del
XM_005249962.4:c.2205-113_2205-108del XP_005250019.1:n.2205-113_2205-108del
XM_005249963.4:c.2178-113_2178-108del XP_005250020.1:n.2178-113_2178-108del
XM_005249964.4:c.2052-113_2052-108del XP_005250021.1:n.2052-113_2052-108del
XM_011515883.2:c.2220-113_2220-108del XP_011514185.1:n.2220-113_2220-108del
XM_011515884.2:c.2196-113_2196-108del XP_011514186.1:n.2196-113_2196-108del
XM_011515885.2:c.2193-113_2193-108del XP_011514187.1:n.2193-113_2193-108del
XM_011515886.2:c.2172-113_2172-108del XP_011514188.1:n.2172-113_2172-108del
XM_011515887.3:c.2169-113_2169-108del XP_011514189.1:n.2169-113_2169-108del
XM_011515888.2:c.2169-113_2169-108del XP_011514190.1:n.2169-113_2169-108del
XM_011515889.2:c.2130-113_2130-108del XP_011514191.1:n.2130-113_2130-108del
XM_011515890.2:c.2103-113_2103-108del XP_011514192.1:n.2103-113_2103-108del
XM_011515891.3:c.2097-113_2097-108del XP_011514193.1:n.2097-113_2097-108del
XM_011515892.2:c.2094-113_2094-108del XP_011514194.1:n.2094-113_2094-108del
XM_011515893.2:c.2088-113_2088-108del XP_011514195.1:n.2088-113_2088-108del
XM_011515894.2:c.2079-113_2079-108del XP_011514196.1:n.2079-113_2079-108del
XM_011515895.2:c.2076-113_2076-108del XP_011514197.1:n.2076-113_2076-108del
XM_011515896.2:c.1962-113_1962-108del XP_011514198.1:n.1962-113_1962-108del
XM_011515897.2:c.1869-113_1869-108del XP_011514199.1:n.1869-113_1869-108del
XM_011515898.2:c.1869-113_1869-108del XP_011514200.1:n.1869-113_1869-108del
XM_017011817.2:c.2220-113_2220-108del XP_016867306.1:n.2220-113_2220-108del
XM_017011818.1:c.2157-113_2157-108del XP_016867307.1:n.2157-113_2157-108del
XM_017011819.1:c.2079-113_2079-108del XP_016867308.1:n.2079-113_2079-108del
XM_017011820.2:c.2052-113_2052-108del XP_016867309.1:n.2052-113_2052-108del
XM_017011821.1:c.1854-113_1854-108del XP_016867310.1:n.1854-113_1854-108del
XM_024446680.1:c.2082-113_2082-108del XP_024302448.1:n.2082-113_2082-108del
XR_001744581.1:n.4570-113_4570-108del
XR_002956413.1:n.5226-113_5226-108del
XR_002956414.1:n.5686-113_5686-108del
NM_001203247.2:c.2181-113_2181-108del NP_001190176.1:n.2181-113_2181-108del
NM_001203248.2:c.2154-113_2154-108del NP_001190177.1:n.2154-113_2154-108del
NM_001203249.2:c.2028-113_2028-108del NP_001190178.1:n.2028-113_2028-108del
NM_004456.5:c.2196-113_2196-108del MANE Select NP_004447.2:n.2196-113_2196-108del
NM_152998.3:c.2064-113_2064-108del NP_694543.1:n.2064-113_2064-108del
Search 100 bp 5'
Search 100 bp 3'