Canonical Allele Identifier: CA2685464317

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807811-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807813_148807814del , CM000669.2:g.148807813_148807814del	GRCh38
NC_000007.13:g.148504905_148504906del , CM000669.1:g.148504905_148504906del	GRCh37
NC_000007.12:g.148135838_148135839del	NCBI36
NG_032043.1:g.81537_81538del , LRG_531:g.81537_81538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4096-107_4096-106del
ENST00000682317.1:c.*1258-107_*1258-106del	ENSP00000508286.1:n.*1258-107_*1258-106del
ENST00000683292.1:c.*1092-107_*1092-106del	ENSP00000507503.1:n.*1092-107_*1092-106del
ENST00000683293.1:n.3915-107_3915-106del
ENST00000683744.1:c.*1258-107_*1258-106del	ENSP00000506949.1:n.*1258-107_*1258-106del
ENST00000684300.1:c.*1258-107_*1258-106del	ENSP00000508407.1:n.*1258-107_*1258-106del
ENST00000684400.1:n.4183-107_4183-106del
ENST00000684436.1:n.2512-107_2512-106del
ENST00000684510.1:n.2574-107_2574-106del
ENST00000320356.7:c.2196-107_2196-106del MANE Select	ENSP00000320147.2:n.2196-107_2196-106del
ENST00000320356.6:c.2196-107_2196-106del	ENSP00000320147.2:n.2196-107_2196-106del
ENST00000350995.6:c.2064-107_2064-106del	ENSP00000223193.2:n.2064-107_2064-106del
ENST00000460911.5:c.2181-107_2181-106del	ENSP00000419711.1:n.2181-107_2181-106del
ENST00000476773.5:c.2028-107_2028-106del	ENSP00000419050.1:n.2028-107_2028-106del
ENST00000478654.5:c.2028-107_2028-106del	ENSP00000417062.1:n.2028-107_2028-106del
ENST00000483967.5:c.2154-107_2154-106del	ENSP00000419856.1:n.2154-107_2154-106del
ENST00000492143.5:c.*2186-107_*2186-106del	ENSP00000417377.1:n.*2186-107_*2186-106del
NM_001203247.1:c.2181-107_2181-106del	NP_001190176.1:n.2181-107_2181-106del
NM_001203248.1:c.2154-107_2154-106del	NP_001190177.1:n.2154-107_2154-106del
NM_001203249.1:c.2028-107_2028-106del	NP_001190178.1:n.2028-107_2028-106del
NM_004456.4:c.2196-107_2196-106del , LRG_531t1:c.2196-107_2196-106del	NP_004447.2:n.2196-107_2196-106del
NM_152998.2:c.2064-107_2064-106del	NP_694543.1:n.2064-107_2064-106del
XM_005249962.3:c.2205-107_2205-106del	XP_005250019.1:n.2205-107_2205-106del
XM_005249963.3:c.2178-107_2178-106del	XP_005250020.1:n.2178-107_2178-106del
XM_005249964.3:c.2052-107_2052-106del	XP_005250021.1:n.2052-107_2052-106del
XM_011515883.1:c.2220-107_2220-106del	XP_011514185.1:n.2220-107_2220-106del
XM_011515884.1:c.2196-107_2196-106del	XP_011514186.1:n.2196-107_2196-106del
XM_011515885.1:c.2193-107_2193-106del	XP_011514187.1:n.2193-107_2193-106del
XM_011515886.1:c.2172-107_2172-106del	XP_011514188.1:n.2172-107_2172-106del
XM_011515887.1:c.2169-107_2169-106del	XP_011514189.1:n.2169-107_2169-106del
XM_011515888.1:c.2169-107_2169-106del	XP_011514190.1:n.2169-107_2169-106del
XM_011515889.1:c.2130-107_2130-106del	XP_011514191.1:n.2130-107_2130-106del
XM_011515890.1:c.2103-107_2103-106del	XP_011514192.1:n.2103-107_2103-106del
XM_011515891.1:c.2097-107_2097-106del	XP_011514193.1:n.2097-107_2097-106del
XM_011515892.1:c.2094-107_2094-106del	XP_011514194.1:n.2094-107_2094-106del
XM_011515893.1:c.2088-107_2088-106del	XP_011514195.1:n.2088-107_2088-106del
XM_011515894.1:c.2079-107_2079-106del	XP_011514196.1:n.2079-107_2079-106del
XM_011515895.1:c.2076-107_2076-106del	XP_011514197.1:n.2076-107_2076-106del
XM_011515896.1:c.1962-107_1962-106del	XP_011514198.1:n.1962-107_1962-106del
XM_011515897.1:c.1869-107_1869-106del	XP_011514199.1:n.1869-107_1869-106del
XM_011515898.1:c.1869-107_1869-106del	XP_011514200.1:n.1869-107_1869-106del
XR_928101.1:n.515+2728_515+2729del
XR_928102.1:n.722+2728_722+2729del
XM_005249962.4:c.2205-107_2205-106del	XP_005250019.1:n.2205-107_2205-106del
XM_005249963.4:c.2178-107_2178-106del	XP_005250020.1:n.2178-107_2178-106del
XM_005249964.4:c.2052-107_2052-106del	XP_005250021.1:n.2052-107_2052-106del
XM_011515883.2:c.2220-107_2220-106del	XP_011514185.1:n.2220-107_2220-106del
XM_011515884.2:c.2196-107_2196-106del	XP_011514186.1:n.2196-107_2196-106del
XM_011515885.2:c.2193-107_2193-106del	XP_011514187.1:n.2193-107_2193-106del
XM_011515886.2:c.2172-107_2172-106del	XP_011514188.1:n.2172-107_2172-106del
XM_011515887.3:c.2169-107_2169-106del	XP_011514189.1:n.2169-107_2169-106del
XM_011515888.2:c.2169-107_2169-106del	XP_011514190.1:n.2169-107_2169-106del
XM_011515889.2:c.2130-107_2130-106del	XP_011514191.1:n.2130-107_2130-106del
XM_011515890.2:c.2103-107_2103-106del	XP_011514192.1:n.2103-107_2103-106del
XM_011515891.3:c.2097-107_2097-106del	XP_011514193.1:n.2097-107_2097-106del
XM_011515892.2:c.2094-107_2094-106del	XP_011514194.1:n.2094-107_2094-106del
XM_011515893.2:c.2088-107_2088-106del	XP_011514195.1:n.2088-107_2088-106del
XM_011515894.2:c.2079-107_2079-106del	XP_011514196.1:n.2079-107_2079-106del
XM_011515895.2:c.2076-107_2076-106del	XP_011514197.1:n.2076-107_2076-106del
XM_011515896.2:c.1962-107_1962-106del	XP_011514198.1:n.1962-107_1962-106del
XM_011515897.2:c.1869-107_1869-106del	XP_011514199.1:n.1869-107_1869-106del
XM_011515898.2:c.1869-107_1869-106del	XP_011514200.1:n.1869-107_1869-106del
XM_017011817.2:c.2220-107_2220-106del	XP_016867306.1:n.2220-107_2220-106del
XM_017011818.1:c.2157-107_2157-106del	XP_016867307.1:n.2157-107_2157-106del
XM_017011819.1:c.2079-107_2079-106del	XP_016867308.1:n.2079-107_2079-106del
XM_017011820.2:c.2052-107_2052-106del	XP_016867309.1:n.2052-107_2052-106del
XM_017011821.1:c.1854-107_1854-106del	XP_016867310.1:n.1854-107_1854-106del
XM_024446680.1:c.2082-107_2082-106del	XP_024302448.1:n.2082-107_2082-106del
XR_001744581.1:n.4570-107_4570-106del
XR_002956413.1:n.5226-107_5226-106del
XR_002956414.1:n.5686-107_5686-106del
NM_001203247.2:c.2181-107_2181-106del	NP_001190176.1:n.2181-107_2181-106del
NM_001203248.2:c.2154-107_2154-106del	NP_001190177.1:n.2154-107_2154-106del
NM_001203249.2:c.2028-107_2028-106del	NP_001190178.1:n.2028-107_2028-106del
NM_004456.5:c.2196-107_2196-106del MANE Select	NP_004447.2:n.2196-107_2196-106del
NM_152998.3:c.2064-107_2064-106del	NP_694543.1:n.2064-107_2064-106del