Canonical Allele Identifier: CA458350902

Gene: EZH2

Linked Data

• dbSNP Id: rs1808814001
• gnomAD v4: 7-148829767-G-A
• MyVariant Identifiers: chr7:g.148526859G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148829767G>A , CM000669.2:g.148829767G>A	GRCh38
NC_000007.13:g.148526859G>A , CM000669.1:g.148526859G>A	GRCh37
NC_000007.12:g.148157792G>A	NCBI36
NG_032043.1:g.59583C>T , LRG_531:g.59583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.593C>T
ENST00000682317.1:c.328C>T	ENSP00000508286.1:p.Leu110=
ENST00000682401.1:n.460C>T
ENST00000683292.1:c.118C>T	ENSP00000507503.1:p.Leu40=
ENST00000683744.1:c.445C>T	ENSP00000506949.1:p.Leu149=
ENST00000684300.1:c.328C>T	ENSP00000508407.1:p.Leu110=
ENST00000320356.7:c.445C>T MANE Select	ENSP00000320147.2:p.Leu149=
ENST00000320356.6:c.445C>T	ENSP00000320147.2:p.Leu149=
ENST00000350995.6:c.328C>T	ENSP00000223193.2:p.Leu110=
ENST00000460911.5:c.445C>T	ENSP00000419711.1:p.Leu149=
ENST00000476773.5:c.418C>T	ENSP00000419050.1:p.Leu140=
ENST00000478654.5:c.418C>T	ENSP00000417062.1:p.Leu140=
ENST00000483012.1:c.*189C>T	ENSP00000417704.1:n.*189C>T
ENST00000483967.5:c.418C>T	ENSP00000419856.1:p.Leu140=
ENST00000492143.5:c.445C>T	ENSP00000417377.1:p.Leu149=
ENST00000498186.5:n.576C>T
NM_001203247.1:c.445C>T	NP_001190176.1:p.Leu149=
NM_001203248.1:c.418C>T	NP_001190177.1:p.Leu140=
NM_001203249.1:c.418C>T	NP_001190178.1:p.Leu140=
NM_004456.4:c.445C>T , LRG_531t1:c.445C>T	NP_004447.2:p.Leu149=
NM_152998.2:c.328C>T	NP_694543.1:p.Leu110=
XM_005249962.3:c.469C>T	XP_005250019.1:p.Leu157=
XM_005249963.3:c.442C>T	XP_005250020.1:p.Leu148=
XM_005249964.3:c.442C>T	XP_005250021.1:p.Leu148=
XM_011515883.1:c.469C>T	XP_011514185.1:p.Leu157=
XM_011515884.1:c.445C>T	XP_011514186.1:p.Leu149=
XM_011515885.1:c.442C>T	XP_011514187.1:p.Leu148=
XM_011515886.1:c.421C>T	XP_011514188.1:p.Leu141=
XM_011515887.1:c.418C>T	XP_011514189.1:p.Leu140=
XM_011515888.1:c.418C>T	XP_011514190.1:p.Leu140=
XM_011515889.1:c.379C>T	XP_011514191.1:p.Leu127=
XM_011515890.1:c.352C>T	XP_011514192.1:p.Leu118=
XM_011515891.1:c.346C>T	XP_011514193.1:p.Leu116=
XM_011515892.1:c.469C>T	XP_011514194.1:p.Leu157=
XM_011515893.1:c.352C>T	XP_011514195.1:p.Leu118=
XM_011515894.1:c.328C>T	XP_011514196.1:p.Leu110=
XM_011515895.1:c.325C>T	XP_011514197.1:p.Leu109=
XM_011515896.1:c.352C>T	XP_011514198.1:p.Leu118=
XM_011515897.1:c.118C>T	XP_011514199.1:p.Leu40=
XM_011515898.1:c.118C>T	XP_011514200.1:p.Leu40=
XM_011515899.1:c.469C>T	XP_011514201.1:p.Leu157=
XM_011515900.1:c.469C>T	XP_011514202.1:p.Leu157=
XM_011515901.1:c.469C>T	XP_011514203.1:p.Leu157=
XM_011515902.1:c.469C>T	XP_011514204.1:p.Leu157=
XM_005249962.4:c.469C>T	XP_005250019.1:p.Leu157=
XM_005249963.4:c.442C>T	XP_005250020.1:p.Leu148=
XM_005249964.4:c.442C>T	XP_005250021.1:p.Leu148=
XM_011515883.2:c.469C>T	XP_011514185.1:p.Leu157=
XM_011515884.2:c.445C>T	XP_011514186.1:p.Leu149=
XM_011515885.2:c.442C>T	XP_011514187.1:p.Leu148=
XM_011515886.2:c.421C>T	XP_011514188.1:p.Leu141=
XM_011515887.3:c.418C>T	XP_011514189.1:p.Leu140=
XM_011515888.2:c.418C>T	XP_011514190.1:p.Leu140=
XM_011515889.2:c.379C>T	XP_011514191.1:p.Leu127=
XM_011515890.2:c.352C>T	XP_011514192.1:p.Leu118=
XM_011515891.3:c.346C>T	XP_011514193.1:p.Leu116=
XM_011515892.2:c.469C>T	XP_011514194.1:p.Leu157=
XM_011515893.2:c.352C>T	XP_011514195.1:p.Leu118=
XM_011515894.2:c.328C>T	XP_011514196.1:p.Leu110=
XM_011515895.2:c.325C>T	XP_011514197.1:p.Leu109=
XM_011515896.2:c.352C>T	XP_011514198.1:p.Leu118=
XM_011515897.2:c.118C>T	XP_011514199.1:p.Leu40=
XM_011515898.2:c.118C>T	XP_011514200.1:p.Leu40=
XM_011515899.3:c.469C>T	XP_011514201.1:p.Leu157=
XM_011515901.3:c.469C>T	XP_011514203.1:p.Leu157=
XM_017011817.2:c.469C>T	XP_016867306.1:p.Leu157=
XM_017011818.1:c.421C>T	XP_016867307.1:p.Leu141=
XM_017011819.1:c.469C>T	XP_016867308.1:p.Leu157=
XM_017011820.2:c.301C>T	XP_016867309.1:p.Leu101=
XM_017011821.1:c.118C>T	XP_016867310.1:p.Leu40=
XM_024446680.1:c.346C>T	XP_024302448.1:p.Leu116=
XR_001744581.1:n.3084C>T
XR_002956413.1:n.3082C>T
XR_002956414.1:n.3084C>T
NM_001203247.2:c.445C>T	NP_001190176.1:p.Leu149=
NM_001203248.2:c.418C>T	NP_001190177.1:p.Leu140=
NM_001203249.2:c.418C>T	NP_001190178.1:p.Leu140=
NM_004456.5:c.445C>T MANE Select	NP_004447.2:p.Leu149=
NM_152998.3:c.328C>T	NP_694543.1:p.Leu110=