Canonical Allele Identifier: CA2685464136

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807625-G-GGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807626_148807627insAGGAG , CM000669.2:g.148807626_148807627insAGGAG	GRCh38
NC_000007.13:g.148504718_148504719insAGGAG , CM000669.1:g.148504718_148504719insAGGAG	GRCh37
NC_000007.12:g.148135651_148135652insAGGAG	NCBI36
NG_032043.1:g.81724_81725insTCCTC , LRG_531:g.81724_81725insTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4176_4177insTCCTC
ENST00000682317.1:c.*1338_*1339insTCCTC	ENSP00000508286.1:n.*1338_*1339insTCCTC
ENST00000683292.1:c.*1172_*1173insTCCTC	ENSP00000507503.1:n.*1172_*1173insTCCTC
ENST00000683293.1:n.3995_3996insTCCTC
ENST00000683744.1:c.*1338_*1339insTCCTC	ENSP00000506949.1:n.*1338_*1339insTCCTC
ENST00000684300.1:c.*1338_*1339insTCCTC	ENSP00000508407.1:n.*1338_*1339insTCCTC
ENST00000684400.1:n.4263_4264insTCCTC
ENST00000684436.1:n.2592_2593insTCCTC
ENST00000684510.1:n.2654_2655insTCCTC
ENST00000320356.7:c.*20_*21insTCCTC MANE Select	ENSP00000320147.2:n.*20_*21insTCCTC
ENST00000320356.6:c.*20_*21insTCCTC	ENSP00000320147.2:n.*20_*21insTCCTC
ENST00000350995.6:c.*20_*21insTCCTC	ENSP00000223193.2:n.*20_*21insTCCTC
ENST00000460911.5:c.*20_*21insTCCTC	ENSP00000419711.1:n.*20_*21insTCCTC
ENST00000476773.5:c.*20_*21insTCCTC	ENSP00000419050.1:n.*20_*21insTCCTC
ENST00000478654.5:c.*20_*21insTCCTC	ENSP00000417062.1:n.*20_*21insTCCTC
ENST00000483967.5:c.*20_*21insTCCTC	ENSP00000419856.1:n.*20_*21insTCCTC
ENST00000492143.5:c.*2266_*2267insTCCTC	ENSP00000417377.1:n.*2266_*2267insTCCTC
NM_001203247.1:c.*20_*21insTCCTC	NP_001190176.1:n.*20_*21insTCCTC
NM_001203248.1:c.*20_*21insTCCTC	NP_001190177.1:n.*20_*21insTCCTC
NM_001203249.1:c.*20_*21insTCCTC	NP_001190178.1:n.*20_*21insTCCTC
NM_004456.4:c.*20_*21insTCCTC , LRG_531t1:c.*20_*21insTCCTC	NP_004447.2:n.*20_*21insTCCTC
NM_152998.2:c.*20_*21insTCCTC	NP_694543.1:n.*20_*21insTCCTC
XM_005249962.3:c.*20_*21insTCCTC	XP_005250019.1:n.*20_*21insTCCTC
XM_005249963.3:c.*20_*21insTCCTC	XP_005250020.1:n.*20_*21insTCCTC
XM_005249964.3:c.*20_*21insTCCTC	XP_005250021.1:n.*20_*21insTCCTC
XM_011515883.1:c.*20_*21insTCCTC	XP_011514185.1:n.*20_*21insTCCTC
XM_011515884.1:c.*20_*21insTCCTC	XP_011514186.1:n.*20_*21insTCCTC
XM_011515885.1:c.*20_*21insTCCTC	XP_011514187.1:n.*20_*21insTCCTC
XM_011515886.1:c.*20_*21insTCCTC	XP_011514188.1:n.*20_*21insTCCTC
XM_011515887.1:c.*20_*21insTCCTC	XP_011514189.1:n.*20_*21insTCCTC
XM_011515888.1:c.*20_*21insTCCTC	XP_011514190.1:n.*20_*21insTCCTC
XM_011515889.1:c.*20_*21insTCCTC	XP_011514191.1:n.*20_*21insTCCTC
XM_011515890.1:c.*20_*21insTCCTC	XP_011514192.1:n.*20_*21insTCCTC
XM_011515891.1:c.*20_*21insTCCTC	XP_011514193.1:n.*20_*21insTCCTC
XM_011515892.1:c.*20_*21insTCCTC	XP_011514194.1:n.*20_*21insTCCTC
XM_011515893.1:c.*20_*21insTCCTC	XP_011514195.1:n.*20_*21insTCCTC
XM_011515894.1:c.*20_*21insTCCTC	XP_011514196.1:n.*20_*21insTCCTC
XM_011515895.1:c.*20_*21insTCCTC	XP_011514197.1:n.*20_*21insTCCTC
XM_011515896.1:c.*20_*21insTCCTC	XP_011514198.1:n.*20_*21insTCCTC
XM_011515897.1:c.*20_*21insTCCTC	XP_011514199.1:n.*20_*21insTCCTC
XM_011515898.1:c.*20_*21insTCCTC	XP_011514200.1:n.*20_*21insTCCTC
XR_928101.1:n.515+2541_515+2542insAGGAG
XR_928102.1:n.722+2541_722+2542insAGGAG
XM_005249962.4:c.*20_*21insTCCTC	XP_005250019.1:n.*20_*21insTCCTC
XM_005249963.4:c.*20_*21insTCCTC	XP_005250020.1:n.*20_*21insTCCTC
XM_005249964.4:c.*20_*21insTCCTC	XP_005250021.1:n.*20_*21insTCCTC
XM_011515883.2:c.*20_*21insTCCTC	XP_011514185.1:n.*20_*21insTCCTC
XM_011515884.2:c.*20_*21insTCCTC	XP_011514186.1:n.*20_*21insTCCTC
XM_011515885.2:c.*20_*21insTCCTC	XP_011514187.1:n.*20_*21insTCCTC
XM_011515886.2:c.*20_*21insTCCTC	XP_011514188.1:n.*20_*21insTCCTC
XM_011515887.3:c.*20_*21insTCCTC	XP_011514189.1:n.*20_*21insTCCTC
XM_011515888.2:c.*20_*21insTCCTC	XP_011514190.1:n.*20_*21insTCCTC
XM_011515889.2:c.*20_*21insTCCTC	XP_011514191.1:n.*20_*21insTCCTC
XM_011515890.2:c.*20_*21insTCCTC	XP_011514192.1:n.*20_*21insTCCTC
XM_011515891.3:c.*20_*21insTCCTC	XP_011514193.1:n.*20_*21insTCCTC
XM_011515892.2:c.*20_*21insTCCTC	XP_011514194.1:n.*20_*21insTCCTC
XM_011515893.2:c.*20_*21insTCCTC	XP_011514195.1:n.*20_*21insTCCTC
XM_011515894.2:c.*20_*21insTCCTC	XP_011514196.1:n.*20_*21insTCCTC
XM_011515895.2:c.*20_*21insTCCTC	XP_011514197.1:n.*20_*21insTCCTC
XM_011515896.2:c.*20_*21insTCCTC	XP_011514198.1:n.*20_*21insTCCTC
XM_011515897.2:c.*20_*21insTCCTC	XP_011514199.1:n.*20_*21insTCCTC
XM_011515898.2:c.*20_*21insTCCTC	XP_011514200.1:n.*20_*21insTCCTC
XM_017011817.2:c.*20_*21insTCCTC	XP_016867306.1:n.*20_*21insTCCTC
XM_017011818.1:c.*20_*21insTCCTC	XP_016867307.1:n.*20_*21insTCCTC
XM_017011819.1:c.*20_*21insTCCTC	XP_016867308.1:n.*20_*21insTCCTC
XM_017011820.2:c.*20_*21insTCCTC	XP_016867309.1:n.*20_*21insTCCTC
XM_017011821.1:c.*20_*21insTCCTC	XP_016867310.1:n.*20_*21insTCCTC
XM_024446680.1:c.*20_*21insTCCTC	XP_024302448.1:n.*20_*21insTCCTC
XR_001744581.1:n.4650_4651insTCCTC
XR_002956413.1:n.5306_5307insTCCTC
XR_002956414.1:n.5766_5767insTCCTC
NM_001203247.2:c.*20_*21insTCCTC	NP_001190176.1:n.*20_*21insTCCTC
NM_001203248.2:c.*20_*21insTCCTC	NP_001190177.1:n.*20_*21insTCCTC
NM_001203249.2:c.*20_*21insTCCTC	NP_001190178.1:n.*20_*21insTCCTC
NM_004456.5:c.*20_*21insTCCTC MANE Select	NP_004447.2:n.*20_*21insTCCTC
NM_152998.3:c.*20_*21insTCCTC	NP_694543.1:n.*20_*21insTCCTC