Canonical Allele Identifier: CA1108533180

Gene: EZH2

Linked Data

• dbSNP Id: rs1801870617
• gnomAD v3: 7-148807780-CCTG-C
• gnomAD v4: 7-148807780-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807784_148807786del , CM000669.2:g.148807784_148807786del	GRCh38
NC_000007.13:g.148504876_148504878del , CM000669.1:g.148504876_148504878del	GRCh37
NC_000007.12:g.148135809_148135811del	NCBI36
NG_032043.1:g.81567_81569del , LRG_531:g.81567_81569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4096-77_4096-75del
ENST00000682317.1:c.*1258-77_*1258-75del	ENSP00000508286.1:n.*1258-77_*1258-75del
ENST00000683292.1:c.*1092-77_*1092-75del	ENSP00000507503.1:n.*1092-77_*1092-75del
ENST00000683293.1:n.3915-77_3915-75del
ENST00000683744.1:c.*1258-77_*1258-75del	ENSP00000506949.1:n.*1258-77_*1258-75del
ENST00000684300.1:c.*1258-77_*1258-75del	ENSP00000508407.1:n.*1258-77_*1258-75del
ENST00000684400.1:n.4183-77_4183-75del
ENST00000684436.1:n.2512-77_2512-75del
ENST00000684510.1:n.2574-77_2574-75del
ENST00000320356.7:c.2196-77_2196-75del MANE Select	ENSP00000320147.2:n.2196-77_2196-75del
ENST00000320356.6:c.2196-77_2196-75del	ENSP00000320147.2:n.2196-77_2196-75del
ENST00000350995.6:c.2064-77_2064-75del	ENSP00000223193.2:n.2064-77_2064-75del
ENST00000460911.5:c.2181-77_2181-75del	ENSP00000419711.1:n.2181-77_2181-75del
ENST00000476773.5:c.2028-77_2028-75del	ENSP00000419050.1:n.2028-77_2028-75del
ENST00000478654.5:c.2028-77_2028-75del	ENSP00000417062.1:n.2028-77_2028-75del
ENST00000483967.5:c.2154-77_2154-75del	ENSP00000419856.1:n.2154-77_2154-75del
ENST00000492143.5:c.*2186-77_*2186-75del	ENSP00000417377.1:n.*2186-77_*2186-75del
NM_001203247.1:c.2181-77_2181-75del	NP_001190176.1:n.2181-77_2181-75del
NM_001203248.1:c.2154-77_2154-75del	NP_001190177.1:n.2154-77_2154-75del
NM_001203249.1:c.2028-77_2028-75del	NP_001190178.1:n.2028-77_2028-75del
NM_004456.4:c.2196-77_2196-75del , LRG_531t1:c.2196-77_2196-75del	NP_004447.2:n.2196-77_2196-75del
NM_152998.2:c.2064-77_2064-75del	NP_694543.1:n.2064-77_2064-75del
XM_005249962.3:c.2205-77_2205-75del	XP_005250019.1:n.2205-77_2205-75del
XM_005249963.3:c.2178-77_2178-75del	XP_005250020.1:n.2178-77_2178-75del
XM_005249964.3:c.2052-77_2052-75del	XP_005250021.1:n.2052-77_2052-75del
XM_011515883.1:c.2220-77_2220-75del	XP_011514185.1:n.2220-77_2220-75del
XM_011515884.1:c.2196-77_2196-75del	XP_011514186.1:n.2196-77_2196-75del
XM_011515885.1:c.2193-77_2193-75del	XP_011514187.1:n.2193-77_2193-75del
XM_011515886.1:c.2172-77_2172-75del	XP_011514188.1:n.2172-77_2172-75del
XM_011515887.1:c.2169-77_2169-75del	XP_011514189.1:n.2169-77_2169-75del
XM_011515888.1:c.2169-77_2169-75del	XP_011514190.1:n.2169-77_2169-75del
XM_011515889.1:c.2130-77_2130-75del	XP_011514191.1:n.2130-77_2130-75del
XM_011515890.1:c.2103-77_2103-75del	XP_011514192.1:n.2103-77_2103-75del
XM_011515891.1:c.2097-77_2097-75del	XP_011514193.1:n.2097-77_2097-75del
XM_011515892.1:c.2094-77_2094-75del	XP_011514194.1:n.2094-77_2094-75del
XM_011515893.1:c.2088-77_2088-75del	XP_011514195.1:n.2088-77_2088-75del
XM_011515894.1:c.2079-77_2079-75del	XP_011514196.1:n.2079-77_2079-75del
XM_011515895.1:c.2076-77_2076-75del	XP_011514197.1:n.2076-77_2076-75del
XM_011515896.1:c.1962-77_1962-75del	XP_011514198.1:n.1962-77_1962-75del
XM_011515897.1:c.1869-77_1869-75del	XP_011514199.1:n.1869-77_1869-75del
XM_011515898.1:c.1869-77_1869-75del	XP_011514200.1:n.1869-77_1869-75del
XR_928101.1:n.515+2699_515+2701del
XR_928102.1:n.722+2699_722+2701del
XM_005249962.4:c.2205-77_2205-75del	XP_005250019.1:n.2205-77_2205-75del
XM_005249963.4:c.2178-77_2178-75del	XP_005250020.1:n.2178-77_2178-75del
XM_005249964.4:c.2052-77_2052-75del	XP_005250021.1:n.2052-77_2052-75del
XM_011515883.2:c.2220-77_2220-75del	XP_011514185.1:n.2220-77_2220-75del
XM_011515884.2:c.2196-77_2196-75del	XP_011514186.1:n.2196-77_2196-75del
XM_011515885.2:c.2193-77_2193-75del	XP_011514187.1:n.2193-77_2193-75del
XM_011515886.2:c.2172-77_2172-75del	XP_011514188.1:n.2172-77_2172-75del
XM_011515887.3:c.2169-77_2169-75del	XP_011514189.1:n.2169-77_2169-75del
XM_011515888.2:c.2169-77_2169-75del	XP_011514190.1:n.2169-77_2169-75del
XM_011515889.2:c.2130-77_2130-75del	XP_011514191.1:n.2130-77_2130-75del
XM_011515890.2:c.2103-77_2103-75del	XP_011514192.1:n.2103-77_2103-75del
XM_011515891.3:c.2097-77_2097-75del	XP_011514193.1:n.2097-77_2097-75del
XM_011515892.2:c.2094-77_2094-75del	XP_011514194.1:n.2094-77_2094-75del
XM_011515893.2:c.2088-77_2088-75del	XP_011514195.1:n.2088-77_2088-75del
XM_011515894.2:c.2079-77_2079-75del	XP_011514196.1:n.2079-77_2079-75del
XM_011515895.2:c.2076-77_2076-75del	XP_011514197.1:n.2076-77_2076-75del
XM_011515896.2:c.1962-77_1962-75del	XP_011514198.1:n.1962-77_1962-75del
XM_011515897.2:c.1869-77_1869-75del	XP_011514199.1:n.1869-77_1869-75del
XM_011515898.2:c.1869-77_1869-75del	XP_011514200.1:n.1869-77_1869-75del
XM_017011817.2:c.2220-77_2220-75del	XP_016867306.1:n.2220-77_2220-75del
XM_017011818.1:c.2157-77_2157-75del	XP_016867307.1:n.2157-77_2157-75del
XM_017011819.1:c.2079-77_2079-75del	XP_016867308.1:n.2079-77_2079-75del
XM_017011820.2:c.2052-77_2052-75del	XP_016867309.1:n.2052-77_2052-75del
XM_017011821.1:c.1854-77_1854-75del	XP_016867310.1:n.1854-77_1854-75del
XM_024446680.1:c.2082-77_2082-75del	XP_024302448.1:n.2082-77_2082-75del
XR_001744581.1:n.4570-77_4570-75del
XR_002956413.1:n.5226-77_5226-75del
XR_002956414.1:n.5686-77_5686-75del
NM_001203247.2:c.2181-77_2181-75del	NP_001190176.1:n.2181-77_2181-75del
NM_001203248.2:c.2154-77_2154-75del	NP_001190177.1:n.2154-77_2154-75del
NM_001203249.2:c.2028-77_2028-75del	NP_001190178.1:n.2028-77_2028-75del
NM_004456.5:c.2196-77_2196-75del MANE Select	NP_004447.2:n.2196-77_2196-75del
NM_152998.3:c.2064-77_2064-75del	NP_694543.1:n.2064-77_2064-75del