Canonical Allele Identifier: CA2685464371
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807840-ATCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807841_148807843del , CM000669.2:g.148807841_148807843del GRCh38
NC_000007.13:g.148504933_148504935del , CM000669.1:g.148504933_148504935del GRCh37
NC_000007.12:g.148135866_148135868del NCBI36
NG_032043.1:g.81507_81509del , LRG_531:g.81507_81509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-137_4096-135del
ENST00000682317.1:c.*1258-137_*1258-135del ENSP00000508286.1:n.*1258-137_*1258-135del
ENST00000683292.1:c.*1092-137_*1092-135del ENSP00000507503.1:n.*1092-137_*1092-135del
ENST00000683293.1:n.3915-137_3915-135del
ENST00000683744.1:c.*1258-137_*1258-135del ENSP00000506949.1:n.*1258-137_*1258-135del
ENST00000684300.1:c.*1258-137_*1258-135del ENSP00000508407.1:n.*1258-137_*1258-135del
ENST00000684400.1:n.4183-137_4183-135del
ENST00000684436.1:n.2512-137_2512-135del
ENST00000684510.1:n.2574-137_2574-135del
ENST00000320356.7:c.2196-137_2196-135del MANE Select ENSP00000320147.2:n.2196-137_2196-135del
ENST00000320356.6:c.2196-137_2196-135del ENSP00000320147.2:n.2196-137_2196-135del
ENST00000350995.6:c.2064-137_2064-135del ENSP00000223193.2:n.2064-137_2064-135del
ENST00000460911.5:c.2181-137_2181-135del ENSP00000419711.1:n.2181-137_2181-135del
ENST00000476773.5:c.2028-137_2028-135del ENSP00000419050.1:n.2028-137_2028-135del
ENST00000478654.5:c.2028-137_2028-135del ENSP00000417062.1:n.2028-137_2028-135del
ENST00000483967.5:c.2154-137_2154-135del ENSP00000419856.1:n.2154-137_2154-135del
ENST00000492143.5:c.*2186-137_*2186-135del ENSP00000417377.1:n.*2186-137_*2186-135del
NM_001203247.1:c.2181-137_2181-135del NP_001190176.1:n.2181-137_2181-135del
NM_001203248.1:c.2154-137_2154-135del NP_001190177.1:n.2154-137_2154-135del
NM_001203249.1:c.2028-137_2028-135del NP_001190178.1:n.2028-137_2028-135del
NM_004456.4:c.2196-137_2196-135del , LRG_531t1:c.2196-137_2196-135del NP_004447.2:n.2196-137_2196-135del
NM_152998.2:c.2064-137_2064-135del NP_694543.1:n.2064-137_2064-135del
XM_005249962.3:c.2205-137_2205-135del XP_005250019.1:n.2205-137_2205-135del
XM_005249963.3:c.2178-137_2178-135del XP_005250020.1:n.2178-137_2178-135del
XM_005249964.3:c.2052-137_2052-135del XP_005250021.1:n.2052-137_2052-135del
XM_011515883.1:c.2220-137_2220-135del XP_011514185.1:n.2220-137_2220-135del
XM_011515884.1:c.2196-137_2196-135del XP_011514186.1:n.2196-137_2196-135del
XM_011515885.1:c.2193-137_2193-135del XP_011514187.1:n.2193-137_2193-135del
XM_011515886.1:c.2172-137_2172-135del XP_011514188.1:n.2172-137_2172-135del
XM_011515887.1:c.2169-137_2169-135del XP_011514189.1:n.2169-137_2169-135del
XM_011515888.1:c.2169-137_2169-135del XP_011514190.1:n.2169-137_2169-135del
XM_011515889.1:c.2130-137_2130-135del XP_011514191.1:n.2130-137_2130-135del
XM_011515890.1:c.2103-137_2103-135del XP_011514192.1:n.2103-137_2103-135del
XM_011515891.1:c.2097-137_2097-135del XP_011514193.1:n.2097-137_2097-135del
XM_011515892.1:c.2094-137_2094-135del XP_011514194.1:n.2094-137_2094-135del
XM_011515893.1:c.2088-137_2088-135del XP_011514195.1:n.2088-137_2088-135del
XM_011515894.1:c.2079-137_2079-135del XP_011514196.1:n.2079-137_2079-135del
XM_011515895.1:c.2076-137_2076-135del XP_011514197.1:n.2076-137_2076-135del
XM_011515896.1:c.1962-137_1962-135del XP_011514198.1:n.1962-137_1962-135del
XM_011515897.1:c.1869-137_1869-135del XP_011514199.1:n.1869-137_1869-135del
XM_011515898.1:c.1869-137_1869-135del XP_011514200.1:n.1869-137_1869-135del
XR_928101.1:n.515+2756_515+2758del
XR_928102.1:n.722+2756_722+2758del
XM_005249962.4:c.2205-137_2205-135del XP_005250019.1:n.2205-137_2205-135del
XM_005249963.4:c.2178-137_2178-135del XP_005250020.1:n.2178-137_2178-135del
XM_005249964.4:c.2052-137_2052-135del XP_005250021.1:n.2052-137_2052-135del
XM_011515883.2:c.2220-137_2220-135del XP_011514185.1:n.2220-137_2220-135del
XM_011515884.2:c.2196-137_2196-135del XP_011514186.1:n.2196-137_2196-135del
XM_011515885.2:c.2193-137_2193-135del XP_011514187.1:n.2193-137_2193-135del
XM_011515886.2:c.2172-137_2172-135del XP_011514188.1:n.2172-137_2172-135del
XM_011515887.3:c.2169-137_2169-135del XP_011514189.1:n.2169-137_2169-135del
XM_011515888.2:c.2169-137_2169-135del XP_011514190.1:n.2169-137_2169-135del
XM_011515889.2:c.2130-137_2130-135del XP_011514191.1:n.2130-137_2130-135del
XM_011515890.2:c.2103-137_2103-135del XP_011514192.1:n.2103-137_2103-135del
XM_011515891.3:c.2097-137_2097-135del XP_011514193.1:n.2097-137_2097-135del
XM_011515892.2:c.2094-137_2094-135del XP_011514194.1:n.2094-137_2094-135del
XM_011515893.2:c.2088-137_2088-135del XP_011514195.1:n.2088-137_2088-135del
XM_011515894.2:c.2079-137_2079-135del XP_011514196.1:n.2079-137_2079-135del
XM_011515895.2:c.2076-137_2076-135del XP_011514197.1:n.2076-137_2076-135del
XM_011515896.2:c.1962-137_1962-135del XP_011514198.1:n.1962-137_1962-135del
XM_011515897.2:c.1869-137_1869-135del XP_011514199.1:n.1869-137_1869-135del
XM_011515898.2:c.1869-137_1869-135del XP_011514200.1:n.1869-137_1869-135del
XM_017011817.2:c.2220-137_2220-135del XP_016867306.1:n.2220-137_2220-135del
XM_017011818.1:c.2157-137_2157-135del XP_016867307.1:n.2157-137_2157-135del
XM_017011819.1:c.2079-137_2079-135del XP_016867308.1:n.2079-137_2079-135del
XM_017011820.2:c.2052-137_2052-135del XP_016867309.1:n.2052-137_2052-135del
XM_017011821.1:c.1854-137_1854-135del XP_016867310.1:n.1854-137_1854-135del
XM_024446680.1:c.2082-137_2082-135del XP_024302448.1:n.2082-137_2082-135del
XR_001744581.1:n.4570-137_4570-135del
XR_002956413.1:n.5226-137_5226-135del
XR_002956414.1:n.5686-137_5686-135del
NM_001203247.2:c.2181-137_2181-135del NP_001190176.1:n.2181-137_2181-135del
NM_001203248.2:c.2154-137_2154-135del NP_001190177.1:n.2154-137_2154-135del
NM_001203249.2:c.2028-137_2028-135del NP_001190178.1:n.2028-137_2028-135del
NM_004456.5:c.2196-137_2196-135del MANE Select NP_004447.2:n.2196-137_2196-135del
NM_152998.3:c.2064-137_2064-135del NP_694543.1:n.2064-137_2064-135del
Search 100 bp 5'
Search 100 bp 3'