Canonical Allele Identifier: CA2685472862

Gene: EZH2

Linked Data

• gnomAD v4: 7-148827341-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148827341_148827342insG , CM000669.2:g.148827341_148827342insG	GRCh38
NC_000007.13:g.148524433_148524434insG , CM000669.1:g.148524433_148524434insG	GRCh37
NC_000007.12:g.148155366_148155367insG	NCBI36
NG_032043.1:g.62008_62009insC , LRG_531:g.62008_62009insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.774-76_774-75insC
ENST00000682317.1:c.509-76_509-75insC	ENSP00000508286.1:n.509-76_509-75insC
ENST00000682401.1:n.641-76_641-75insC
ENST00000683292.1:c.299-76_299-75insC	ENSP00000507503.1:n.299-76_299-75insC
ENST00000683744.1:c.626-76_626-75insC	ENSP00000506949.1:n.626-76_626-75insC
ENST00000684300.1:c.509-76_509-75insC	ENSP00000508407.1:n.509-76_509-75insC
ENST00000320356.7:c.626-76_626-75insC MANE Select	ENSP00000320147.2:n.626-76_626-75insC
ENST00000320356.6:c.626-76_626-75insC	ENSP00000320147.2:n.626-76_626-75insC
ENST00000350995.6:c.509-76_509-75insC	ENSP00000223193.2:n.509-76_509-75insC
ENST00000460911.5:c.626-76_626-75insC	ENSP00000419711.1:n.626-76_626-75insC
ENST00000476773.5:c.599-76_599-75insC	ENSP00000419050.1:n.599-76_599-75insC
ENST00000478654.5:c.599-76_599-75insC	ENSP00000417062.1:n.599-76_599-75insC
ENST00000483012.1:c.*370-76_*370-75insC	ENSP00000417704.1:n.*370-76_*370-75insC
ENST00000483967.5:c.599-76_599-75insC	ENSP00000419856.1:n.599-76_599-75insC
ENST00000492143.5:c.626-76_626-75insC	ENSP00000417377.1:n.626-76_626-75insC
ENST00000498186.5:n.757-76_757-75insC
NM_001203247.1:c.626-76_626-75insC	NP_001190176.1:n.626-76_626-75insC
NM_001203248.1:c.599-76_599-75insC	NP_001190177.1:n.599-76_599-75insC
NM_001203249.1:c.599-76_599-75insC	NP_001190178.1:n.599-76_599-75insC
NM_004456.4:c.626-76_626-75insC , LRG_531t1:c.626-76_626-75insC	NP_004447.2:n.626-76_626-75insC
NM_152998.2:c.509-76_509-75insC	NP_694543.1:n.509-76_509-75insC
XM_005249962.3:c.650-76_650-75insC	XP_005250019.1:n.650-76_650-75insC
XM_005249963.3:c.623-76_623-75insC	XP_005250020.1:n.623-76_623-75insC
XM_005249964.3:c.623-76_623-75insC	XP_005250021.1:n.623-76_623-75insC
XM_011515883.1:c.650-76_650-75insC	XP_011514185.1:n.650-76_650-75insC
XM_011515884.1:c.626-76_626-75insC	XP_011514186.1:n.626-76_626-75insC
XM_011515885.1:c.623-76_623-75insC	XP_011514187.1:n.623-76_623-75insC
XM_011515886.1:c.602-76_602-75insC	XP_011514188.1:n.602-76_602-75insC
XM_011515887.1:c.599-76_599-75insC	XP_011514189.1:n.599-76_599-75insC
XM_011515888.1:c.599-76_599-75insC	XP_011514190.1:n.599-76_599-75insC
XM_011515889.1:c.560-76_560-75insC	XP_011514191.1:n.560-76_560-75insC
XM_011515890.1:c.533-76_533-75insC	XP_011514192.1:n.533-76_533-75insC
XM_011515891.1:c.527-76_527-75insC	XP_011514193.1:n.527-76_527-75insC
XM_011515892.1:c.650-76_650-75insC	XP_011514194.1:n.650-76_650-75insC
XM_011515893.1:c.533-76_533-75insC	XP_011514195.1:n.533-76_533-75insC
XM_011515894.1:c.509-76_509-75insC	XP_011514196.1:n.509-76_509-75insC
XM_011515895.1:c.506-76_506-75insC	XP_011514197.1:n.506-76_506-75insC
XM_011515896.1:c.533-76_533-75insC	XP_011514198.1:n.533-76_533-75insC
XM_011515897.1:c.299-76_299-75insC	XP_011514199.1:n.299-76_299-75insC
XM_011515898.1:c.299-76_299-75insC	XP_011514200.1:n.299-76_299-75insC
XM_011515899.1:c.650-76_650-75insC	XP_011514201.1:n.650-76_650-75insC
XM_011515900.1:c.650-76_650-75insC	XP_011514202.1:n.650-76_650-75insC
XM_011515901.1:c.650-76_650-75insC	XP_011514203.1:n.650-76_650-75insC
XM_011515902.1:c.650-76_650-75insC	XP_011514204.1:n.650-76_650-75insC
XM_005249962.4:c.650-76_650-75insC	XP_005250019.1:n.650-76_650-75insC
XM_005249963.4:c.623-76_623-75insC	XP_005250020.1:n.623-76_623-75insC
XM_005249964.4:c.623-76_623-75insC	XP_005250021.1:n.623-76_623-75insC
XM_011515883.2:c.650-76_650-75insC	XP_011514185.1:n.650-76_650-75insC
XM_011515884.2:c.626-76_626-75insC	XP_011514186.1:n.626-76_626-75insC
XM_011515885.2:c.623-76_623-75insC	XP_011514187.1:n.623-76_623-75insC
XM_011515886.2:c.602-76_602-75insC	XP_011514188.1:n.602-76_602-75insC
XM_011515887.3:c.599-76_599-75insC	XP_011514189.1:n.599-76_599-75insC
XM_011515888.2:c.599-76_599-75insC	XP_011514190.1:n.599-76_599-75insC
XM_011515889.2:c.560-76_560-75insC	XP_011514191.1:n.560-76_560-75insC
XM_011515890.2:c.533-76_533-75insC	XP_011514192.1:n.533-76_533-75insC
XM_011515891.3:c.527-76_527-75insC	XP_011514193.1:n.527-76_527-75insC
XM_011515892.2:c.650-76_650-75insC	XP_011514194.1:n.650-76_650-75insC
XM_011515893.2:c.533-76_533-75insC	XP_011514195.1:n.533-76_533-75insC
XM_011515894.2:c.509-76_509-75insC	XP_011514196.1:n.509-76_509-75insC
XM_011515895.2:c.506-76_506-75insC	XP_011514197.1:n.506-76_506-75insC
XM_011515896.2:c.533-76_533-75insC	XP_011514198.1:n.533-76_533-75insC
XM_011515897.2:c.299-76_299-75insC	XP_011514199.1:n.299-76_299-75insC
XM_011515898.2:c.299-76_299-75insC	XP_011514200.1:n.299-76_299-75insC
XM_011515899.3:c.650-76_650-75insC	XP_011514201.1:n.650-76_650-75insC
XM_011515901.3:c.650-76_650-75insC	XP_011514203.1:n.650-76_650-75insC
XM_017011817.2:c.650-76_650-75insC	XP_016867306.1:n.650-76_650-75insC
XM_017011818.1:c.602-76_602-75insC	XP_016867307.1:n.602-76_602-75insC
XM_017011819.1:c.650-76_650-75insC	XP_016867308.1:n.650-76_650-75insC
XM_017011820.2:c.482-76_482-75insC	XP_016867309.1:n.482-76_482-75insC
XM_017011821.1:c.299-76_299-75insC	XP_016867310.1:n.299-76_299-75insC
XM_024446680.1:c.527-76_527-75insC	XP_024302448.1:n.527-76_527-75insC
XR_001744581.1:n.3265-76_3265-75insC
XR_002956413.1:n.3263-76_3263-75insC
XR_002956414.1:n.3265-76_3265-75insC
NM_001203247.2:c.626-76_626-75insC	NP_001190176.1:n.626-76_626-75insC
NM_001203248.2:c.599-76_599-75insC	NP_001190177.1:n.599-76_599-75insC
NM_001203249.2:c.599-76_599-75insC	NP_001190178.1:n.599-76_599-75insC
NM_004456.5:c.626-76_626-75insC MANE Select	NP_004447.2:n.626-76_626-75insC
NM_152998.3:c.509-76_509-75insC	NP_694543.1:n.509-76_509-75insC