Canonical Allele Identifier: CA4548055

Gene: EZH2

Linked Data

• ClinVar Variation Id: 359283
• ClinVar RCV Id: RCV000389465
• dbSNP Id: rs148843424
• ExAC: 7:148524327 A / G
• gnomAD v2: 7-148524327-A-G
• gnomAD v3: 7-148827235-A-G
• gnomAD v4: 7-148827235-A-G
• MyVariant Identifiers: chr7:g.148524327A>G (hg19) ; chr7:g.148827235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148827235A>G , CM000669.2:g.148827235A>G	GRCh38
NC_000007.13:g.148524327A>G , CM000669.1:g.148524327A>G	GRCh37
NC_000007.12:g.148155260A>G	NCBI36
NG_032043.1:g.62115T>C , LRG_531:g.62115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.805T>C
ENST00000682317.1:c.540T>C	ENSP00000508286.1:p.Pro180=
ENST00000682401.1:n.672T>C
ENST00000683292.1:c.330T>C	ENSP00000507503.1:p.Pro110=
ENST00000683744.1:c.657T>C	ENSP00000506949.1:p.Pro219=
ENST00000684300.1:c.540T>C	ENSP00000508407.1:p.Pro180=
ENST00000320356.7:c.657T>C MANE Select	ENSP00000320147.2:p.Pro219=
ENST00000320356.6:c.657T>C	ENSP00000320147.2:p.Pro219=
ENST00000350995.6:c.540T>C	ENSP00000223193.2:p.Pro180=
ENST00000460911.5:c.657T>C	ENSP00000419711.1:p.Pro219=
ENST00000476773.5:c.630T>C	ENSP00000419050.1:p.Pro210=
ENST00000478654.5:c.630T>C	ENSP00000417062.1:p.Pro210=
ENST00000483012.1:c.*401T>C	ENSP00000417704.1:n.*401T>C
ENST00000483967.5:c.630T>C	ENSP00000419856.1:p.Pro210=
ENST00000492143.5:c.657T>C	ENSP00000417377.1:p.Pro219=
ENST00000498186.5:n.788T>C
NM_001203247.1:c.657T>C	NP_001190176.1:p.Pro219=
NM_001203248.1:c.630T>C	NP_001190177.1:p.Pro210=
NM_001203249.1:c.630T>C	NP_001190178.1:p.Pro210=
NM_004456.4:c.657T>C , LRG_531t1:c.657T>C	NP_004447.2:p.Pro219=
NM_152998.2:c.540T>C	NP_694543.1:p.Pro180=
XM_005249962.3:c.681T>C	XP_005250019.1:p.Pro227=
XM_005249963.3:c.654T>C	XP_005250020.1:p.Pro218=
XM_005249964.3:c.654T>C	XP_005250021.1:p.Pro218=
XM_011515883.1:c.681T>C	XP_011514185.1:p.Pro227=
XM_011515884.1:c.657T>C	XP_011514186.1:p.Pro219=
XM_011515885.1:c.654T>C	XP_011514187.1:p.Pro218=
XM_011515886.1:c.633T>C	XP_011514188.1:p.Pro211=
XM_011515887.1:c.630T>C	XP_011514189.1:p.Pro210=
XM_011515888.1:c.630T>C	XP_011514190.1:p.Pro210=
XM_011515889.1:c.591T>C	XP_011514191.1:p.Pro197=
XM_011515890.1:c.564T>C	XP_011514192.1:p.Pro188=
XM_011515891.1:c.558T>C	XP_011514193.1:p.Pro186=
XM_011515892.1:c.681T>C	XP_011514194.1:p.Pro227=
XM_011515893.1:c.564T>C	XP_011514195.1:p.Pro188=
XM_011515894.1:c.540T>C	XP_011514196.1:p.Pro180=
XM_011515895.1:c.537T>C	XP_011514197.1:p.Pro179=
XM_011515896.1:c.564T>C	XP_011514198.1:p.Pro188=
XM_011515897.1:c.330T>C	XP_011514199.1:p.Pro110=
XM_011515898.1:c.330T>C	XP_011514200.1:p.Pro110=
XM_011515899.1:c.681T>C	XP_011514201.1:p.Pro227=
XM_011515900.1:c.681T>C	XP_011514202.1:p.Pro227=
XM_011515901.1:c.681T>C	XP_011514203.1:p.Pro227=
XM_011515902.1:c.681T>C	XP_011514204.1:p.Pro227=
XM_005249962.4:c.681T>C	XP_005250019.1:p.Pro227=
XM_005249963.4:c.654T>C	XP_005250020.1:p.Pro218=
XM_005249964.4:c.654T>C	XP_005250021.1:p.Pro218=
XM_011515883.2:c.681T>C	XP_011514185.1:p.Pro227=
XM_011515884.2:c.657T>C	XP_011514186.1:p.Pro219=
XM_011515885.2:c.654T>C	XP_011514187.1:p.Pro218=
XM_011515886.2:c.633T>C	XP_011514188.1:p.Pro211=
XM_011515887.3:c.630T>C	XP_011514189.1:p.Pro210=
XM_011515888.2:c.630T>C	XP_011514190.1:p.Pro210=
XM_011515889.2:c.591T>C	XP_011514191.1:p.Pro197=
XM_011515890.2:c.564T>C	XP_011514192.1:p.Pro188=
XM_011515891.3:c.558T>C	XP_011514193.1:p.Pro186=
XM_011515892.2:c.681T>C	XP_011514194.1:p.Pro227=
XM_011515893.2:c.564T>C	XP_011514195.1:p.Pro188=
XM_011515894.2:c.540T>C	XP_011514196.1:p.Pro180=
XM_011515895.2:c.537T>C	XP_011514197.1:p.Pro179=
XM_011515896.2:c.564T>C	XP_011514198.1:p.Pro188=
XM_011515897.2:c.330T>C	XP_011514199.1:p.Pro110=
XM_011515898.2:c.330T>C	XP_011514200.1:p.Pro110=
XM_011515899.3:c.681T>C	XP_011514201.1:p.Pro227=
XM_011515901.3:c.681T>C	XP_011514203.1:p.Pro227=
XM_017011817.2:c.681T>C	XP_016867306.1:p.Pro227=
XM_017011818.1:c.633T>C	XP_016867307.1:p.Pro211=
XM_017011819.1:c.681T>C	XP_016867308.1:p.Pro227=
XM_017011820.2:c.513T>C	XP_016867309.1:p.Pro171=
XM_017011821.1:c.330T>C	XP_016867310.1:p.Pro110=
XM_024446680.1:c.558T>C	XP_024302448.1:p.Pro186=
XR_001744581.1:n.3296T>C
XR_002956413.1:n.3294T>C
XR_002956414.1:n.3296T>C
NM_001203247.2:c.657T>C	NP_001190176.1:p.Pro219=
NM_001203248.2:c.630T>C	NP_001190177.1:p.Pro210=
NM_001203249.2:c.630T>C	NP_001190178.1:p.Pro210=
NM_004456.5:c.657T>C MANE Select	NP_004447.2:p.Pro219=
NM_152998.3:c.540T>C	NP_694543.1:p.Pro180=