Canonical Allele Identifier: CA2685464333
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807814-T-TTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807814_148807815insTA , CM000669.2:g.148807814_148807815insTA GRCh38
NC_000007.13:g.148504906_148504907insTA , CM000669.1:g.148504906_148504907insTA GRCh37
NC_000007.12:g.148135839_148135840insTA NCBI36
NG_032043.1:g.81535_81536insTA , LRG_531:g.81535_81536insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.4096-109_4096-108insTA
ENST00000682317.1:c.*1258-109_*1258-108insTA ENSP00000508286.1:n.*1258-109_*1258-108insTA
ENST00000683292.1:c.*1092-109_*1092-108insTA ENSP00000507503.1:n.*1092-109_*1092-108insTA
ENST00000683293.1:n.3915-109_3915-108insTA
ENST00000683744.1:c.*1258-109_*1258-108insTA ENSP00000506949.1:n.*1258-109_*1258-108insTA
ENST00000684300.1:c.*1258-109_*1258-108insTA ENSP00000508407.1:n.*1258-109_*1258-108insTA
ENST00000684400.1:n.4183-109_4183-108insTA
ENST00000684436.1:n.2512-109_2512-108insTA
ENST00000684510.1:n.2574-109_2574-108insTA
ENST00000320356.7:c.2196-109_2196-108insTA MANE Select ENSP00000320147.2:n.2196-109_2196-108insTA
ENST00000320356.6:c.2196-109_2196-108insTA ENSP00000320147.2:n.2196-109_2196-108insTA
ENST00000350995.6:c.2064-109_2064-108insTA ENSP00000223193.2:n.2064-109_2064-108insTA
ENST00000460911.5:c.2181-109_2181-108insTA ENSP00000419711.1:n.2181-109_2181-108insTA
ENST00000476773.5:c.2028-109_2028-108insTA ENSP00000419050.1:n.2028-109_2028-108insTA
ENST00000478654.5:c.2028-109_2028-108insTA ENSP00000417062.1:n.2028-109_2028-108insTA
ENST00000483967.5:c.2154-109_2154-108insTA ENSP00000419856.1:n.2154-109_2154-108insTA
ENST00000492143.5:c.*2186-109_*2186-108insTA ENSP00000417377.1:n.*2186-109_*2186-108insTA
NM_001203247.1:c.2181-109_2181-108insTA NP_001190176.1:n.2181-109_2181-108insTA
NM_001203248.1:c.2154-109_2154-108insTA NP_001190177.1:n.2154-109_2154-108insTA
NM_001203249.1:c.2028-109_2028-108insTA NP_001190178.1:n.2028-109_2028-108insTA
NM_004456.4:c.2196-109_2196-108insTA , LRG_531t1:c.2196-109_2196-108insTA NP_004447.2:n.2196-109_2196-108insTA
NM_152998.2:c.2064-109_2064-108insTA NP_694543.1:n.2064-109_2064-108insTA
XM_005249962.3:c.2205-109_2205-108insTA XP_005250019.1:n.2205-109_2205-108insTA
XM_005249963.3:c.2178-109_2178-108insTA XP_005250020.1:n.2178-109_2178-108insTA
XM_005249964.3:c.2052-109_2052-108insTA XP_005250021.1:n.2052-109_2052-108insTA
XM_011515883.1:c.2220-109_2220-108insTA XP_011514185.1:n.2220-109_2220-108insTA
XM_011515884.1:c.2196-109_2196-108insTA XP_011514186.1:n.2196-109_2196-108insTA
XM_011515885.1:c.2193-109_2193-108insTA XP_011514187.1:n.2193-109_2193-108insTA
XM_011515886.1:c.2172-109_2172-108insTA XP_011514188.1:n.2172-109_2172-108insTA
XM_011515887.1:c.2169-109_2169-108insTA XP_011514189.1:n.2169-109_2169-108insTA
XM_011515888.1:c.2169-109_2169-108insTA XP_011514190.1:n.2169-109_2169-108insTA
XM_011515889.1:c.2130-109_2130-108insTA XP_011514191.1:n.2130-109_2130-108insTA
XM_011515890.1:c.2103-109_2103-108insTA XP_011514192.1:n.2103-109_2103-108insTA
XM_011515891.1:c.2097-109_2097-108insTA XP_011514193.1:n.2097-109_2097-108insTA
XM_011515892.1:c.2094-109_2094-108insTA XP_011514194.1:n.2094-109_2094-108insTA
XM_011515893.1:c.2088-109_2088-108insTA XP_011514195.1:n.2088-109_2088-108insTA
XM_011515894.1:c.2079-109_2079-108insTA XP_011514196.1:n.2079-109_2079-108insTA
XM_011515895.1:c.2076-109_2076-108insTA XP_011514197.1:n.2076-109_2076-108insTA
XM_011515896.1:c.1962-109_1962-108insTA XP_011514198.1:n.1962-109_1962-108insTA
XM_011515897.1:c.1869-109_1869-108insTA XP_011514199.1:n.1869-109_1869-108insTA
XM_011515898.1:c.1869-109_1869-108insTA XP_011514200.1:n.1869-109_1869-108insTA
XR_928101.1:n.515+2729_515+2730insTA
XR_928102.1:n.722+2729_722+2730insTA
XM_005249962.4:c.2205-109_2205-108insTA XP_005250019.1:n.2205-109_2205-108insTA
XM_005249963.4:c.2178-109_2178-108insTA XP_005250020.1:n.2178-109_2178-108insTA
XM_005249964.4:c.2052-109_2052-108insTA XP_005250021.1:n.2052-109_2052-108insTA
XM_011515883.2:c.2220-109_2220-108insTA XP_011514185.1:n.2220-109_2220-108insTA
XM_011515884.2:c.2196-109_2196-108insTA XP_011514186.1:n.2196-109_2196-108insTA
XM_011515885.2:c.2193-109_2193-108insTA XP_011514187.1:n.2193-109_2193-108insTA
XM_011515886.2:c.2172-109_2172-108insTA XP_011514188.1:n.2172-109_2172-108insTA
XM_011515887.3:c.2169-109_2169-108insTA XP_011514189.1:n.2169-109_2169-108insTA
XM_011515888.2:c.2169-109_2169-108insTA XP_011514190.1:n.2169-109_2169-108insTA
XM_011515889.2:c.2130-109_2130-108insTA XP_011514191.1:n.2130-109_2130-108insTA
XM_011515890.2:c.2103-109_2103-108insTA XP_011514192.1:n.2103-109_2103-108insTA
XM_011515891.3:c.2097-109_2097-108insTA XP_011514193.1:n.2097-109_2097-108insTA
XM_011515892.2:c.2094-109_2094-108insTA XP_011514194.1:n.2094-109_2094-108insTA
XM_011515893.2:c.2088-109_2088-108insTA XP_011514195.1:n.2088-109_2088-108insTA
XM_011515894.2:c.2079-109_2079-108insTA XP_011514196.1:n.2079-109_2079-108insTA
XM_011515895.2:c.2076-109_2076-108insTA XP_011514197.1:n.2076-109_2076-108insTA
XM_011515896.2:c.1962-109_1962-108insTA XP_011514198.1:n.1962-109_1962-108insTA
XM_011515897.2:c.1869-109_1869-108insTA XP_011514199.1:n.1869-109_1869-108insTA
XM_011515898.2:c.1869-109_1869-108insTA XP_011514200.1:n.1869-109_1869-108insTA
XM_017011817.2:c.2220-109_2220-108insTA XP_016867306.1:n.2220-109_2220-108insTA
XM_017011818.1:c.2157-109_2157-108insTA XP_016867307.1:n.2157-109_2157-108insTA
XM_017011819.1:c.2079-109_2079-108insTA XP_016867308.1:n.2079-109_2079-108insTA
XM_017011820.2:c.2052-109_2052-108insTA XP_016867309.1:n.2052-109_2052-108insTA
XM_017011821.1:c.1854-109_1854-108insTA XP_016867310.1:n.1854-109_1854-108insTA
XM_024446680.1:c.2082-109_2082-108insTA XP_024302448.1:n.2082-109_2082-108insTA
XR_001744581.1:n.4570-109_4570-108insTA
XR_002956413.1:n.5226-109_5226-108insTA
XR_002956414.1:n.5686-109_5686-108insTA
NM_001203247.2:c.2181-109_2181-108insTA NP_001190176.1:n.2181-109_2181-108insTA
NM_001203248.2:c.2154-109_2154-108insTA NP_001190177.1:n.2154-109_2154-108insTA
NM_001203249.2:c.2028-109_2028-108insTA NP_001190178.1:n.2028-109_2028-108insTA
NM_004456.5:c.2196-109_2196-108insTA MANE Select NP_004447.2:n.2196-109_2196-108insTA
NM_152998.3:c.2064-109_2064-108insTA NP_694543.1:n.2064-109_2064-108insTA
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