Canonical Allele Identifier: CA2685464296

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807792-A-AAGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807792_148807793insAGATT , CM000669.2:g.148807792_148807793insAGATT	GRCh38
NC_000007.13:g.148504884_148504885insAGATT , CM000669.1:g.148504884_148504885insAGATT	GRCh37
NC_000007.12:g.148135817_148135818insAGATT	NCBI36
NG_032043.1:g.81557_81558insAATCT , LRG_531:g.81557_81558insAATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4096-87_4096-86insAATCT
ENST00000682317.1:c.*1258-87_*1258-86insAATCT	ENSP00000508286.1:n.*1258-87_*1258-86insAATCT
ENST00000683292.1:c.*1092-87_*1092-86insAATCT	ENSP00000507503.1:n.*1092-87_*1092-86insAATCT
ENST00000683293.1:n.3915-87_3915-86insAATCT
ENST00000683744.1:c.*1258-87_*1258-86insAATCT	ENSP00000506949.1:n.*1258-87_*1258-86insAATCT
ENST00000684300.1:c.*1258-87_*1258-86insAATCT	ENSP00000508407.1:n.*1258-87_*1258-86insAATCT
ENST00000684400.1:n.4183-87_4183-86insAATCT
ENST00000684436.1:n.2512-87_2512-86insAATCT
ENST00000684510.1:n.2574-87_2574-86insAATCT
ENST00000320356.7:c.2196-87_2196-86insAATCT MANE Select	ENSP00000320147.2:n.2196-87_2196-86insAATCT
ENST00000320356.6:c.2196-87_2196-86insAATCT	ENSP00000320147.2:n.2196-87_2196-86insAATCT
ENST00000350995.6:c.2064-87_2064-86insAATCT	ENSP00000223193.2:n.2064-87_2064-86insAATCT
ENST00000460911.5:c.2181-87_2181-86insAATCT	ENSP00000419711.1:n.2181-87_2181-86insAATCT
ENST00000476773.5:c.2028-87_2028-86insAATCT	ENSP00000419050.1:n.2028-87_2028-86insAATCT
ENST00000478654.5:c.2028-87_2028-86insAATCT	ENSP00000417062.1:n.2028-87_2028-86insAATCT
ENST00000483967.5:c.2154-87_2154-86insAATCT	ENSP00000419856.1:n.2154-87_2154-86insAATCT
ENST00000492143.5:c.*2186-87_*2186-86insAATCT	ENSP00000417377.1:n.*2186-87_*2186-86insAATCT
NM_001203247.1:c.2181-87_2181-86insAATCT	NP_001190176.1:n.2181-87_2181-86insAATCT
NM_001203248.1:c.2154-87_2154-86insAATCT	NP_001190177.1:n.2154-87_2154-86insAATCT
NM_001203249.1:c.2028-87_2028-86insAATCT	NP_001190178.1:n.2028-87_2028-86insAATCT
NM_004456.4:c.2196-87_2196-86insAATCT , LRG_531t1:c.2196-87_2196-86insAATCT	NP_004447.2:n.2196-87_2196-86insAATCT
NM_152998.2:c.2064-87_2064-86insAATCT	NP_694543.1:n.2064-87_2064-86insAATCT
XM_005249962.3:c.2205-87_2205-86insAATCT	XP_005250019.1:n.2205-87_2205-86insAATCT
XM_005249963.3:c.2178-87_2178-86insAATCT	XP_005250020.1:n.2178-87_2178-86insAATCT
XM_005249964.3:c.2052-87_2052-86insAATCT	XP_005250021.1:n.2052-87_2052-86insAATCT
XM_011515883.1:c.2220-87_2220-86insAATCT	XP_011514185.1:n.2220-87_2220-86insAATCT
XM_011515884.1:c.2196-87_2196-86insAATCT	XP_011514186.1:n.2196-87_2196-86insAATCT
XM_011515885.1:c.2193-87_2193-86insAATCT	XP_011514187.1:n.2193-87_2193-86insAATCT
XM_011515886.1:c.2172-87_2172-86insAATCT	XP_011514188.1:n.2172-87_2172-86insAATCT
XM_011515887.1:c.2169-87_2169-86insAATCT	XP_011514189.1:n.2169-87_2169-86insAATCT
XM_011515888.1:c.2169-87_2169-86insAATCT	XP_011514190.1:n.2169-87_2169-86insAATCT
XM_011515889.1:c.2130-87_2130-86insAATCT	XP_011514191.1:n.2130-87_2130-86insAATCT
XM_011515890.1:c.2103-87_2103-86insAATCT	XP_011514192.1:n.2103-87_2103-86insAATCT
XM_011515891.1:c.2097-87_2097-86insAATCT	XP_011514193.1:n.2097-87_2097-86insAATCT
XM_011515892.1:c.2094-87_2094-86insAATCT	XP_011514194.1:n.2094-87_2094-86insAATCT
XM_011515893.1:c.2088-87_2088-86insAATCT	XP_011514195.1:n.2088-87_2088-86insAATCT
XM_011515894.1:c.2079-87_2079-86insAATCT	XP_011514196.1:n.2079-87_2079-86insAATCT
XM_011515895.1:c.2076-87_2076-86insAATCT	XP_011514197.1:n.2076-87_2076-86insAATCT
XM_011515896.1:c.1962-87_1962-86insAATCT	XP_011514198.1:n.1962-87_1962-86insAATCT
XM_011515897.1:c.1869-87_1869-86insAATCT	XP_011514199.1:n.1869-87_1869-86insAATCT
XM_011515898.1:c.1869-87_1869-86insAATCT	XP_011514200.1:n.1869-87_1869-86insAATCT
XR_928101.1:n.515+2707_515+2708insAGATT
XR_928102.1:n.722+2707_722+2708insAGATT
XM_005249962.4:c.2205-87_2205-86insAATCT	XP_005250019.1:n.2205-87_2205-86insAATCT
XM_005249963.4:c.2178-87_2178-86insAATCT	XP_005250020.1:n.2178-87_2178-86insAATCT
XM_005249964.4:c.2052-87_2052-86insAATCT	XP_005250021.1:n.2052-87_2052-86insAATCT
XM_011515883.2:c.2220-87_2220-86insAATCT	XP_011514185.1:n.2220-87_2220-86insAATCT
XM_011515884.2:c.2196-87_2196-86insAATCT	XP_011514186.1:n.2196-87_2196-86insAATCT
XM_011515885.2:c.2193-87_2193-86insAATCT	XP_011514187.1:n.2193-87_2193-86insAATCT
XM_011515886.2:c.2172-87_2172-86insAATCT	XP_011514188.1:n.2172-87_2172-86insAATCT
XM_011515887.3:c.2169-87_2169-86insAATCT	XP_011514189.1:n.2169-87_2169-86insAATCT
XM_011515888.2:c.2169-87_2169-86insAATCT	XP_011514190.1:n.2169-87_2169-86insAATCT
XM_011515889.2:c.2130-87_2130-86insAATCT	XP_011514191.1:n.2130-87_2130-86insAATCT
XM_011515890.2:c.2103-87_2103-86insAATCT	XP_011514192.1:n.2103-87_2103-86insAATCT
XM_011515891.3:c.2097-87_2097-86insAATCT	XP_011514193.1:n.2097-87_2097-86insAATCT
XM_011515892.2:c.2094-87_2094-86insAATCT	XP_011514194.1:n.2094-87_2094-86insAATCT
XM_011515893.2:c.2088-87_2088-86insAATCT	XP_011514195.1:n.2088-87_2088-86insAATCT
XM_011515894.2:c.2079-87_2079-86insAATCT	XP_011514196.1:n.2079-87_2079-86insAATCT
XM_011515895.2:c.2076-87_2076-86insAATCT	XP_011514197.1:n.2076-87_2076-86insAATCT
XM_011515896.2:c.1962-87_1962-86insAATCT	XP_011514198.1:n.1962-87_1962-86insAATCT
XM_011515897.2:c.1869-87_1869-86insAATCT	XP_011514199.1:n.1869-87_1869-86insAATCT
XM_011515898.2:c.1869-87_1869-86insAATCT	XP_011514200.1:n.1869-87_1869-86insAATCT
XM_017011817.2:c.2220-87_2220-86insAATCT	XP_016867306.1:n.2220-87_2220-86insAATCT
XM_017011818.1:c.2157-87_2157-86insAATCT	XP_016867307.1:n.2157-87_2157-86insAATCT
XM_017011819.1:c.2079-87_2079-86insAATCT	XP_016867308.1:n.2079-87_2079-86insAATCT
XM_017011820.2:c.2052-87_2052-86insAATCT	XP_016867309.1:n.2052-87_2052-86insAATCT
XM_017011821.1:c.1854-87_1854-86insAATCT	XP_016867310.1:n.1854-87_1854-86insAATCT
XM_024446680.1:c.2082-87_2082-86insAATCT	XP_024302448.1:n.2082-87_2082-86insAATCT
XR_001744581.1:n.4570-87_4570-86insAATCT
XR_002956413.1:n.5226-87_5226-86insAATCT
XR_002956414.1:n.5686-87_5686-86insAATCT
NM_001203247.2:c.2181-87_2181-86insAATCT	NP_001190176.1:n.2181-87_2181-86insAATCT
NM_001203248.2:c.2154-87_2154-86insAATCT	NP_001190177.1:n.2154-87_2154-86insAATCT
NM_001203249.2:c.2028-87_2028-86insAATCT	NP_001190178.1:n.2028-87_2028-86insAATCT
NM_004456.5:c.2196-87_2196-86insAATCT MANE Select	NP_004447.2:n.2196-87_2196-86insAATCT
NM_152998.3:c.2064-87_2064-86insAATCT	NP_694543.1:n.2064-87_2064-86insAATCT