Canonical Allele Identifier: CA2685464364

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807835-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807835_148807836insC , CM000669.2:g.148807835_148807836insC	GRCh38
NC_000007.13:g.148504927_148504928insC , CM000669.1:g.148504927_148504928insC	GRCh37
NC_000007.12:g.148135860_148135861insC	NCBI36
NG_032043.1:g.81514_81515insG , LRG_531:g.81514_81515insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4096-130_4096-129insG
ENST00000682317.1:c.*1258-130_*1258-129insG	ENSP00000508286.1:n.*1258-130_*1258-129insG
ENST00000683292.1:c.*1092-130_*1092-129insG	ENSP00000507503.1:n.*1092-130_*1092-129insG
ENST00000683293.1:n.3915-130_3915-129insG
ENST00000683744.1:c.*1258-130_*1258-129insG	ENSP00000506949.1:n.*1258-130_*1258-129insG
ENST00000684300.1:c.*1258-130_*1258-129insG	ENSP00000508407.1:n.*1258-130_*1258-129insG
ENST00000684400.1:n.4183-130_4183-129insG
ENST00000684436.1:n.2512-130_2512-129insG
ENST00000684510.1:n.2574-130_2574-129insG
ENST00000320356.7:c.2196-130_2196-129insG MANE Select	ENSP00000320147.2:n.2196-130_2196-129insG
ENST00000320356.6:c.2196-130_2196-129insG	ENSP00000320147.2:n.2196-130_2196-129insG
ENST00000350995.6:c.2064-130_2064-129insG	ENSP00000223193.2:n.2064-130_2064-129insG
ENST00000460911.5:c.2181-130_2181-129insG	ENSP00000419711.1:n.2181-130_2181-129insG
ENST00000476773.5:c.2028-130_2028-129insG	ENSP00000419050.1:n.2028-130_2028-129insG
ENST00000478654.5:c.2028-130_2028-129insG	ENSP00000417062.1:n.2028-130_2028-129insG
ENST00000483967.5:c.2154-130_2154-129insG	ENSP00000419856.1:n.2154-130_2154-129insG
ENST00000492143.5:c.*2186-130_*2186-129insG	ENSP00000417377.1:n.*2186-130_*2186-129insG
NM_001203247.1:c.2181-130_2181-129insG	NP_001190176.1:n.2181-130_2181-129insG
NM_001203248.1:c.2154-130_2154-129insG	NP_001190177.1:n.2154-130_2154-129insG
NM_001203249.1:c.2028-130_2028-129insG	NP_001190178.1:n.2028-130_2028-129insG
NM_004456.4:c.2196-130_2196-129insG , LRG_531t1:c.2196-130_2196-129insG	NP_004447.2:n.2196-130_2196-129insG
NM_152998.2:c.2064-130_2064-129insG	NP_694543.1:n.2064-130_2064-129insG
XM_005249962.3:c.2205-130_2205-129insG	XP_005250019.1:n.2205-130_2205-129insG
XM_005249963.3:c.2178-130_2178-129insG	XP_005250020.1:n.2178-130_2178-129insG
XM_005249964.3:c.2052-130_2052-129insG	XP_005250021.1:n.2052-130_2052-129insG
XM_011515883.1:c.2220-130_2220-129insG	XP_011514185.1:n.2220-130_2220-129insG
XM_011515884.1:c.2196-130_2196-129insG	XP_011514186.1:n.2196-130_2196-129insG
XM_011515885.1:c.2193-130_2193-129insG	XP_011514187.1:n.2193-130_2193-129insG
XM_011515886.1:c.2172-130_2172-129insG	XP_011514188.1:n.2172-130_2172-129insG
XM_011515887.1:c.2169-130_2169-129insG	XP_011514189.1:n.2169-130_2169-129insG
XM_011515888.1:c.2169-130_2169-129insG	XP_011514190.1:n.2169-130_2169-129insG
XM_011515889.1:c.2130-130_2130-129insG	XP_011514191.1:n.2130-130_2130-129insG
XM_011515890.1:c.2103-130_2103-129insG	XP_011514192.1:n.2103-130_2103-129insG
XM_011515891.1:c.2097-130_2097-129insG	XP_011514193.1:n.2097-130_2097-129insG
XM_011515892.1:c.2094-130_2094-129insG	XP_011514194.1:n.2094-130_2094-129insG
XM_011515893.1:c.2088-130_2088-129insG	XP_011514195.1:n.2088-130_2088-129insG
XM_011515894.1:c.2079-130_2079-129insG	XP_011514196.1:n.2079-130_2079-129insG
XM_011515895.1:c.2076-130_2076-129insG	XP_011514197.1:n.2076-130_2076-129insG
XM_011515896.1:c.1962-130_1962-129insG	XP_011514198.1:n.1962-130_1962-129insG
XM_011515897.1:c.1869-130_1869-129insG	XP_011514199.1:n.1869-130_1869-129insG
XM_011515898.1:c.1869-130_1869-129insG	XP_011514200.1:n.1869-130_1869-129insG
XR_928101.1:n.515+2750_515+2751insC
XR_928102.1:n.722+2750_722+2751insC
XM_005249962.4:c.2205-130_2205-129insG	XP_005250019.1:n.2205-130_2205-129insG
XM_005249963.4:c.2178-130_2178-129insG	XP_005250020.1:n.2178-130_2178-129insG
XM_005249964.4:c.2052-130_2052-129insG	XP_005250021.1:n.2052-130_2052-129insG
XM_011515883.2:c.2220-130_2220-129insG	XP_011514185.1:n.2220-130_2220-129insG
XM_011515884.2:c.2196-130_2196-129insG	XP_011514186.1:n.2196-130_2196-129insG
XM_011515885.2:c.2193-130_2193-129insG	XP_011514187.1:n.2193-130_2193-129insG
XM_011515886.2:c.2172-130_2172-129insG	XP_011514188.1:n.2172-130_2172-129insG
XM_011515887.3:c.2169-130_2169-129insG	XP_011514189.1:n.2169-130_2169-129insG
XM_011515888.2:c.2169-130_2169-129insG	XP_011514190.1:n.2169-130_2169-129insG
XM_011515889.2:c.2130-130_2130-129insG	XP_011514191.1:n.2130-130_2130-129insG
XM_011515890.2:c.2103-130_2103-129insG	XP_011514192.1:n.2103-130_2103-129insG
XM_011515891.3:c.2097-130_2097-129insG	XP_011514193.1:n.2097-130_2097-129insG
XM_011515892.2:c.2094-130_2094-129insG	XP_011514194.1:n.2094-130_2094-129insG
XM_011515893.2:c.2088-130_2088-129insG	XP_011514195.1:n.2088-130_2088-129insG
XM_011515894.2:c.2079-130_2079-129insG	XP_011514196.1:n.2079-130_2079-129insG
XM_011515895.2:c.2076-130_2076-129insG	XP_011514197.1:n.2076-130_2076-129insG
XM_011515896.2:c.1962-130_1962-129insG	XP_011514198.1:n.1962-130_1962-129insG
XM_011515897.2:c.1869-130_1869-129insG	XP_011514199.1:n.1869-130_1869-129insG
XM_011515898.2:c.1869-130_1869-129insG	XP_011514200.1:n.1869-130_1869-129insG
XM_017011817.2:c.2220-130_2220-129insG	XP_016867306.1:n.2220-130_2220-129insG
XM_017011818.1:c.2157-130_2157-129insG	XP_016867307.1:n.2157-130_2157-129insG
XM_017011819.1:c.2079-130_2079-129insG	XP_016867308.1:n.2079-130_2079-129insG
XM_017011820.2:c.2052-130_2052-129insG	XP_016867309.1:n.2052-130_2052-129insG
XM_017011821.1:c.1854-130_1854-129insG	XP_016867310.1:n.1854-130_1854-129insG
XM_024446680.1:c.2082-130_2082-129insG	XP_024302448.1:n.2082-130_2082-129insG
XR_001744581.1:n.4570-130_4570-129insG
XR_002956413.1:n.5226-130_5226-129insG
XR_002956414.1:n.5686-130_5686-129insG
NM_001203247.2:c.2181-130_2181-129insG	NP_001190176.1:n.2181-130_2181-129insG
NM_001203248.2:c.2154-130_2154-129insG	NP_001190177.1:n.2154-130_2154-129insG
NM_001203249.2:c.2028-130_2028-129insG	NP_001190178.1:n.2028-130_2028-129insG
NM_004456.5:c.2196-130_2196-129insG MANE Select	NP_004447.2:n.2196-130_2196-129insG
NM_152998.3:c.2064-130_2064-129insG	NP_694543.1:n.2064-130_2064-129insG