Canonical Allele Identifier: CA2685464212
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807753-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807754_148807755del , CM000669.2:g.148807754_148807755del GRCh38
NC_000007.13:g.148504846_148504847del , CM000669.1:g.148504846_148504847del GRCh37
NC_000007.12:g.148135779_148135780del NCBI36
NG_032043.1:g.81595_81596del , LRG_531:g.81595_81596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-49_4096-48del
ENST00000682317.1:c.*1258-49_*1258-48del ENSP00000508286.1:n.*1258-49_*1258-48del
ENST00000683292.1:c.*1092-49_*1092-48del ENSP00000507503.1:n.*1092-49_*1092-48del
ENST00000683293.1:n.3915-49_3915-48del
ENST00000683744.1:c.*1258-49_*1258-48del ENSP00000506949.1:n.*1258-49_*1258-48del
ENST00000684300.1:c.*1258-49_*1258-48del ENSP00000508407.1:n.*1258-49_*1258-48del
ENST00000684400.1:n.4183-49_4183-48del
ENST00000684436.1:n.2512-49_2512-48del
ENST00000684510.1:n.2574-49_2574-48del
ENST00000320356.7:c.2196-49_2196-48del MANE Select ENSP00000320147.2:n.2196-49_2196-48del
ENST00000320356.6:c.2196-49_2196-48del ENSP00000320147.2:n.2196-49_2196-48del
ENST00000350995.6:c.2064-49_2064-48del ENSP00000223193.2:n.2064-49_2064-48del
ENST00000460911.5:c.2181-49_2181-48del ENSP00000419711.1:n.2181-49_2181-48del
ENST00000476773.5:c.2028-49_2028-48del ENSP00000419050.1:n.2028-49_2028-48del
ENST00000478654.5:c.2028-49_2028-48del ENSP00000417062.1:n.2028-49_2028-48del
ENST00000483967.5:c.2154-49_2154-48del ENSP00000419856.1:n.2154-49_2154-48del
ENST00000492143.5:c.*2186-49_*2186-48del ENSP00000417377.1:n.*2186-49_*2186-48del
NM_001203247.1:c.2181-49_2181-48del NP_001190176.1:n.2181-49_2181-48del
NM_001203248.1:c.2154-49_2154-48del NP_001190177.1:n.2154-49_2154-48del
NM_001203249.1:c.2028-49_2028-48del NP_001190178.1:n.2028-49_2028-48del
NM_004456.4:c.2196-49_2196-48del , LRG_531t1:c.2196-49_2196-48del NP_004447.2:n.2196-49_2196-48del
NM_152998.2:c.2064-49_2064-48del NP_694543.1:n.2064-49_2064-48del
XM_005249962.3:c.2205-49_2205-48del XP_005250019.1:n.2205-49_2205-48del
XM_005249963.3:c.2178-49_2178-48del XP_005250020.1:n.2178-49_2178-48del
XM_005249964.3:c.2052-49_2052-48del XP_005250021.1:n.2052-49_2052-48del
XM_011515883.1:c.2220-49_2220-48del XP_011514185.1:n.2220-49_2220-48del
XM_011515884.1:c.2196-49_2196-48del XP_011514186.1:n.2196-49_2196-48del
XM_011515885.1:c.2193-49_2193-48del XP_011514187.1:n.2193-49_2193-48del
XM_011515886.1:c.2172-49_2172-48del XP_011514188.1:n.2172-49_2172-48del
XM_011515887.1:c.2169-49_2169-48del XP_011514189.1:n.2169-49_2169-48del
XM_011515888.1:c.2169-49_2169-48del XP_011514190.1:n.2169-49_2169-48del
XM_011515889.1:c.2130-49_2130-48del XP_011514191.1:n.2130-49_2130-48del
XM_011515890.1:c.2103-49_2103-48del XP_011514192.1:n.2103-49_2103-48del
XM_011515891.1:c.2097-49_2097-48del XP_011514193.1:n.2097-49_2097-48del
XM_011515892.1:c.2094-49_2094-48del XP_011514194.1:n.2094-49_2094-48del
XM_011515893.1:c.2088-49_2088-48del XP_011514195.1:n.2088-49_2088-48del
XM_011515894.1:c.2079-49_2079-48del XP_011514196.1:n.2079-49_2079-48del
XM_011515895.1:c.2076-49_2076-48del XP_011514197.1:n.2076-49_2076-48del
XM_011515896.1:c.1962-49_1962-48del XP_011514198.1:n.1962-49_1962-48del
XM_011515897.1:c.1869-49_1869-48del XP_011514199.1:n.1869-49_1869-48del
XM_011515898.1:c.1869-49_1869-48del XP_011514200.1:n.1869-49_1869-48del
XR_928101.1:n.515+2669_515+2670del
XR_928102.1:n.722+2669_722+2670del
XM_005249962.4:c.2205-49_2205-48del XP_005250019.1:n.2205-49_2205-48del
XM_005249963.4:c.2178-49_2178-48del XP_005250020.1:n.2178-49_2178-48del
XM_005249964.4:c.2052-49_2052-48del XP_005250021.1:n.2052-49_2052-48del
XM_011515883.2:c.2220-49_2220-48del XP_011514185.1:n.2220-49_2220-48del
XM_011515884.2:c.2196-49_2196-48del XP_011514186.1:n.2196-49_2196-48del
XM_011515885.2:c.2193-49_2193-48del XP_011514187.1:n.2193-49_2193-48del
XM_011515886.2:c.2172-49_2172-48del XP_011514188.1:n.2172-49_2172-48del
XM_011515887.3:c.2169-49_2169-48del XP_011514189.1:n.2169-49_2169-48del
XM_011515888.2:c.2169-49_2169-48del XP_011514190.1:n.2169-49_2169-48del
XM_011515889.2:c.2130-49_2130-48del XP_011514191.1:n.2130-49_2130-48del
XM_011515890.2:c.2103-49_2103-48del XP_011514192.1:n.2103-49_2103-48del
XM_011515891.3:c.2097-49_2097-48del XP_011514193.1:n.2097-49_2097-48del
XM_011515892.2:c.2094-49_2094-48del XP_011514194.1:n.2094-49_2094-48del
XM_011515893.2:c.2088-49_2088-48del XP_011514195.1:n.2088-49_2088-48del
XM_011515894.2:c.2079-49_2079-48del XP_011514196.1:n.2079-49_2079-48del
XM_011515895.2:c.2076-49_2076-48del XP_011514197.1:n.2076-49_2076-48del
XM_011515896.2:c.1962-49_1962-48del XP_011514198.1:n.1962-49_1962-48del
XM_011515897.2:c.1869-49_1869-48del XP_011514199.1:n.1869-49_1869-48del
XM_011515898.2:c.1869-49_1869-48del XP_011514200.1:n.1869-49_1869-48del
XM_017011817.2:c.2220-49_2220-48del XP_016867306.1:n.2220-49_2220-48del
XM_017011818.1:c.2157-49_2157-48del XP_016867307.1:n.2157-49_2157-48del
XM_017011819.1:c.2079-49_2079-48del XP_016867308.1:n.2079-49_2079-48del
XM_017011820.2:c.2052-49_2052-48del XP_016867309.1:n.2052-49_2052-48del
XM_017011821.1:c.1854-49_1854-48del XP_016867310.1:n.1854-49_1854-48del
XM_024446680.1:c.2082-49_2082-48del XP_024302448.1:n.2082-49_2082-48del
XR_001744581.1:n.4570-49_4570-48del
XR_002956413.1:n.5226-49_5226-48del
XR_002956414.1:n.5686-49_5686-48del
NM_001203247.2:c.2181-49_2181-48del NP_001190176.1:n.2181-49_2181-48del
NM_001203248.2:c.2154-49_2154-48del NP_001190177.1:n.2154-49_2154-48del
NM_001203249.2:c.2028-49_2028-48del NP_001190178.1:n.2028-49_2028-48del
NM_004456.5:c.2196-49_2196-48del MANE Select NP_004447.2:n.2196-49_2196-48del
NM_152998.3:c.2064-49_2064-48del NP_694543.1:n.2064-49_2064-48del
Search 100 bp 5'
Search 100 bp 3'