Canonical Allele Identifier: CA2685464285

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807785-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807785_148807786insAAA , CM000669.2:g.148807785_148807786insAAA	GRCh38
NC_000007.13:g.148504877_148504878insAAA , CM000669.1:g.148504877_148504878insAAA	GRCh37
NC_000007.12:g.148135810_148135811insAAA	NCBI36
NG_032043.1:g.81564_81565insTTT , LRG_531:g.81564_81565insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4096-80_4096-79insTTT
ENST00000682317.1:c.*1258-80_*1258-79insTTT	ENSP00000508286.1:n.*1258-80_*1258-79insTTT
ENST00000683292.1:c.*1092-80_*1092-79insTTT	ENSP00000507503.1:n.*1092-80_*1092-79insTTT
ENST00000683293.1:n.3915-80_3915-79insTTT
ENST00000683744.1:c.*1258-80_*1258-79insTTT	ENSP00000506949.1:n.*1258-80_*1258-79insTTT
ENST00000684300.1:c.*1258-80_*1258-79insTTT	ENSP00000508407.1:n.*1258-80_*1258-79insTTT
ENST00000684400.1:n.4183-80_4183-79insTTT
ENST00000684436.1:n.2512-80_2512-79insTTT
ENST00000684510.1:n.2574-80_2574-79insTTT
ENST00000320356.7:c.2196-80_2196-79insTTT MANE Select	ENSP00000320147.2:n.2196-80_2196-79insTTT
ENST00000320356.6:c.2196-80_2196-79insTTT	ENSP00000320147.2:n.2196-80_2196-79insTTT
ENST00000350995.6:c.2064-80_2064-79insTTT	ENSP00000223193.2:n.2064-80_2064-79insTTT
ENST00000460911.5:c.2181-80_2181-79insTTT	ENSP00000419711.1:n.2181-80_2181-79insTTT
ENST00000476773.5:c.2028-80_2028-79insTTT	ENSP00000419050.1:n.2028-80_2028-79insTTT
ENST00000478654.5:c.2028-80_2028-79insTTT	ENSP00000417062.1:n.2028-80_2028-79insTTT
ENST00000483967.5:c.2154-80_2154-79insTTT	ENSP00000419856.1:n.2154-80_2154-79insTTT
ENST00000492143.5:c.*2186-80_*2186-79insTTT	ENSP00000417377.1:n.*2186-80_*2186-79insTTT
NM_001203247.1:c.2181-80_2181-79insTTT	NP_001190176.1:n.2181-80_2181-79insTTT
NM_001203248.1:c.2154-80_2154-79insTTT	NP_001190177.1:n.2154-80_2154-79insTTT
NM_001203249.1:c.2028-80_2028-79insTTT	NP_001190178.1:n.2028-80_2028-79insTTT
NM_004456.4:c.2196-80_2196-79insTTT , LRG_531t1:c.2196-80_2196-79insTTT	NP_004447.2:n.2196-80_2196-79insTTT
NM_152998.2:c.2064-80_2064-79insTTT	NP_694543.1:n.2064-80_2064-79insTTT
XM_005249962.3:c.2205-80_2205-79insTTT	XP_005250019.1:n.2205-80_2205-79insTTT
XM_005249963.3:c.2178-80_2178-79insTTT	XP_005250020.1:n.2178-80_2178-79insTTT
XM_005249964.3:c.2052-80_2052-79insTTT	XP_005250021.1:n.2052-80_2052-79insTTT
XM_011515883.1:c.2220-80_2220-79insTTT	XP_011514185.1:n.2220-80_2220-79insTTT
XM_011515884.1:c.2196-80_2196-79insTTT	XP_011514186.1:n.2196-80_2196-79insTTT
XM_011515885.1:c.2193-80_2193-79insTTT	XP_011514187.1:n.2193-80_2193-79insTTT
XM_011515886.1:c.2172-80_2172-79insTTT	XP_011514188.1:n.2172-80_2172-79insTTT
XM_011515887.1:c.2169-80_2169-79insTTT	XP_011514189.1:n.2169-80_2169-79insTTT
XM_011515888.1:c.2169-80_2169-79insTTT	XP_011514190.1:n.2169-80_2169-79insTTT
XM_011515889.1:c.2130-80_2130-79insTTT	XP_011514191.1:n.2130-80_2130-79insTTT
XM_011515890.1:c.2103-80_2103-79insTTT	XP_011514192.1:n.2103-80_2103-79insTTT
XM_011515891.1:c.2097-80_2097-79insTTT	XP_011514193.1:n.2097-80_2097-79insTTT
XM_011515892.1:c.2094-80_2094-79insTTT	XP_011514194.1:n.2094-80_2094-79insTTT
XM_011515893.1:c.2088-80_2088-79insTTT	XP_011514195.1:n.2088-80_2088-79insTTT
XM_011515894.1:c.2079-80_2079-79insTTT	XP_011514196.1:n.2079-80_2079-79insTTT
XM_011515895.1:c.2076-80_2076-79insTTT	XP_011514197.1:n.2076-80_2076-79insTTT
XM_011515896.1:c.1962-80_1962-79insTTT	XP_011514198.1:n.1962-80_1962-79insTTT
XM_011515897.1:c.1869-80_1869-79insTTT	XP_011514199.1:n.1869-80_1869-79insTTT
XM_011515898.1:c.1869-80_1869-79insTTT	XP_011514200.1:n.1869-80_1869-79insTTT
XR_928101.1:n.515+2700_515+2701insAAA
XR_928102.1:n.722+2700_722+2701insAAA
XM_005249962.4:c.2205-80_2205-79insTTT	XP_005250019.1:n.2205-80_2205-79insTTT
XM_005249963.4:c.2178-80_2178-79insTTT	XP_005250020.1:n.2178-80_2178-79insTTT
XM_005249964.4:c.2052-80_2052-79insTTT	XP_005250021.1:n.2052-80_2052-79insTTT
XM_011515883.2:c.2220-80_2220-79insTTT	XP_011514185.1:n.2220-80_2220-79insTTT
XM_011515884.2:c.2196-80_2196-79insTTT	XP_011514186.1:n.2196-80_2196-79insTTT
XM_011515885.2:c.2193-80_2193-79insTTT	XP_011514187.1:n.2193-80_2193-79insTTT
XM_011515886.2:c.2172-80_2172-79insTTT	XP_011514188.1:n.2172-80_2172-79insTTT
XM_011515887.3:c.2169-80_2169-79insTTT	XP_011514189.1:n.2169-80_2169-79insTTT
XM_011515888.2:c.2169-80_2169-79insTTT	XP_011514190.1:n.2169-80_2169-79insTTT
XM_011515889.2:c.2130-80_2130-79insTTT	XP_011514191.1:n.2130-80_2130-79insTTT
XM_011515890.2:c.2103-80_2103-79insTTT	XP_011514192.1:n.2103-80_2103-79insTTT
XM_011515891.3:c.2097-80_2097-79insTTT	XP_011514193.1:n.2097-80_2097-79insTTT
XM_011515892.2:c.2094-80_2094-79insTTT	XP_011514194.1:n.2094-80_2094-79insTTT
XM_011515893.2:c.2088-80_2088-79insTTT	XP_011514195.1:n.2088-80_2088-79insTTT
XM_011515894.2:c.2079-80_2079-79insTTT	XP_011514196.1:n.2079-80_2079-79insTTT
XM_011515895.2:c.2076-80_2076-79insTTT	XP_011514197.1:n.2076-80_2076-79insTTT
XM_011515896.2:c.1962-80_1962-79insTTT	XP_011514198.1:n.1962-80_1962-79insTTT
XM_011515897.2:c.1869-80_1869-79insTTT	XP_011514199.1:n.1869-80_1869-79insTTT
XM_011515898.2:c.1869-80_1869-79insTTT	XP_011514200.1:n.1869-80_1869-79insTTT
XM_017011817.2:c.2220-80_2220-79insTTT	XP_016867306.1:n.2220-80_2220-79insTTT
XM_017011818.1:c.2157-80_2157-79insTTT	XP_016867307.1:n.2157-80_2157-79insTTT
XM_017011819.1:c.2079-80_2079-79insTTT	XP_016867308.1:n.2079-80_2079-79insTTT
XM_017011820.2:c.2052-80_2052-79insTTT	XP_016867309.1:n.2052-80_2052-79insTTT
XM_017011821.1:c.1854-80_1854-79insTTT	XP_016867310.1:n.1854-80_1854-79insTTT
XM_024446680.1:c.2082-80_2082-79insTTT	XP_024302448.1:n.2082-80_2082-79insTTT
XR_001744581.1:n.4570-80_4570-79insTTT
XR_002956413.1:n.5226-80_5226-79insTTT
XR_002956414.1:n.5686-80_5686-79insTTT
NM_001203247.2:c.2181-80_2181-79insTTT	NP_001190176.1:n.2181-80_2181-79insTTT
NM_001203248.2:c.2154-80_2154-79insTTT	NP_001190177.1:n.2154-80_2154-79insTTT
NM_001203249.2:c.2028-80_2028-79insTTT	NP_001190178.1:n.2028-80_2028-79insTTT
NM_004456.5:c.2196-80_2196-79insTTT MANE Select	NP_004447.2:n.2196-80_2196-79insTTT
NM_152998.3:c.2064-80_2064-79insTTT	NP_694543.1:n.2064-80_2064-79insTTT