Canonical Allele Identifier: CA16618395

Gene: EZH2

Linked Data

• ClinVar Variation Id: 423764
• ClinVar RCV Id: RCV000485113
• dbSNP Id: rs1064796617
• MyVariant Identifiers: chr7:g.148525907C>G (hg19) ; chr7:g.148828815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148828815C>G , CM000669.2:g.148828815C>G	GRCh38
NC_000007.13:g.148525907C>G , CM000669.1:g.148525907C>G	GRCh37
NC_000007.12:g.148156840C>G	NCBI36
NG_032043.1:g.60535G>C , LRG_531:g.60535G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.698G>C
ENST00000682317.1:c.433G>C	ENSP00000508286.1:p.Asp145His
ENST00000682401.1:n.565G>C
ENST00000683292.1:c.223G>C	ENSP00000507503.1:p.Asp75His
ENST00000683744.1:c.550G>C	ENSP00000506949.1:p.Asp184His
ENST00000684300.1:c.433G>C	ENSP00000508407.1:p.Asp145His
ENST00000320356.7:c.550G>C MANE Select	ENSP00000320147.2:p.Asp184His
ENST00000320356.6:c.550G>C	ENSP00000320147.2:p.Asp184His
ENST00000350995.6:c.433G>C	ENSP00000223193.2:p.Asp145His
ENST00000460911.5:c.550G>C	ENSP00000419711.1:p.Asp184His
ENST00000476773.5:c.523G>C	ENSP00000419050.1:p.Asp175His
ENST00000478654.5:c.523G>C	ENSP00000417062.1:p.Asp175His
ENST00000483012.1:c.*294G>C	ENSP00000417704.1:n.*294G>C
ENST00000483967.5:c.523G>C	ENSP00000419856.1:p.Asp175His
ENST00000492143.5:c.550G>C	ENSP00000417377.1:p.Asp184His
ENST00000498186.5:n.681G>C
NM_001203247.1:c.550G>C	NP_001190176.1:p.Asp184His
NM_001203248.1:c.523G>C	NP_001190177.1:p.Asp175His
NM_001203249.1:c.523G>C	NP_001190178.1:p.Asp175His
NM_004456.4:c.550G>C , LRG_531t1:c.550G>C	NP_004447.2:p.Asp184His
NM_152998.2:c.433G>C	NP_694543.1:p.Asp145His
XM_005249962.3:c.574G>C	XP_005250019.1:p.Asp192His
XM_005249963.3:c.547G>C	XP_005250020.1:p.Asp183His
XM_005249964.3:c.547G>C	XP_005250021.1:p.Asp183His
XM_011515883.1:c.574G>C	XP_011514185.1:p.Asp192His
XM_011515884.1:c.550G>C	XP_011514186.1:p.Asp184His
XM_011515885.1:c.547G>C	XP_011514187.1:p.Asp183His
XM_011515886.1:c.526G>C	XP_011514188.1:p.Asp176His
XM_011515887.1:c.523G>C	XP_011514189.1:p.Asp175His
XM_011515888.1:c.523G>C	XP_011514190.1:p.Asp175His
XM_011515889.1:c.484G>C	XP_011514191.1:p.Asp162His
XM_011515890.1:c.457G>C	XP_011514192.1:p.Asp153His
XM_011515891.1:c.451G>C	XP_011514193.1:p.Asp151His
XM_011515892.1:c.574G>C	XP_011514194.1:p.Asp192His
XM_011515893.1:c.457G>C	XP_011514195.1:p.Asp153His
XM_011515894.1:c.433G>C	XP_011514196.1:p.Asp145His
XM_011515895.1:c.430G>C	XP_011514197.1:p.Asp144His
XM_011515896.1:c.457G>C	XP_011514198.1:p.Asp153His
XM_011515897.1:c.223G>C	XP_011514199.1:p.Asp75His
XM_011515898.1:c.223G>C	XP_011514200.1:p.Asp75His
XM_011515899.1:c.574G>C	XP_011514201.1:p.Asp192His
XM_011515900.1:c.574G>C	XP_011514202.1:p.Asp192His
XM_011515901.1:c.574G>C	XP_011514203.1:p.Asp192His
XM_011515902.1:c.574G>C	XP_011514204.1:p.Asp192His
XM_005249962.4:c.574G>C	XP_005250019.1:p.Asp192His
XM_005249963.4:c.547G>C	XP_005250020.1:p.Asp183His
XM_005249964.4:c.547G>C	XP_005250021.1:p.Asp183His
XM_011515883.2:c.574G>C	XP_011514185.1:p.Asp192His
XM_011515884.2:c.550G>C	XP_011514186.1:p.Asp184His
XM_011515885.2:c.547G>C	XP_011514187.1:p.Asp183His
XM_011515886.2:c.526G>C	XP_011514188.1:p.Asp176His
XM_011515887.3:c.523G>C	XP_011514189.1:p.Asp175His
XM_011515888.2:c.523G>C	XP_011514190.1:p.Asp175His
XM_011515889.2:c.484G>C	XP_011514191.1:p.Asp162His
XM_011515890.2:c.457G>C	XP_011514192.1:p.Asp153His
XM_011515891.3:c.451G>C	XP_011514193.1:p.Asp151His
XM_011515892.2:c.574G>C	XP_011514194.1:p.Asp192His
XM_011515893.2:c.457G>C	XP_011514195.1:p.Asp153His
XM_011515894.2:c.433G>C	XP_011514196.1:p.Asp145His
XM_011515895.2:c.430G>C	XP_011514197.1:p.Asp144His
XM_011515896.2:c.457G>C	XP_011514198.1:p.Asp153His
XM_011515897.2:c.223G>C	XP_011514199.1:p.Asp75His
XM_011515898.2:c.223G>C	XP_011514200.1:p.Asp75His
XM_011515899.3:c.574G>C	XP_011514201.1:p.Asp192His
XM_011515901.3:c.574G>C	XP_011514203.1:p.Asp192His
XM_017011817.2:c.574G>C	XP_016867306.1:p.Asp192His
XM_017011818.1:c.526G>C	XP_016867307.1:p.Asp176His
XM_017011819.1:c.574G>C	XP_016867308.1:p.Asp192His
XM_017011820.2:c.406G>C	XP_016867309.1:p.Asp136His
XM_017011821.1:c.223G>C	XP_016867310.1:p.Asp75His
XM_024446680.1:c.451G>C	XP_024302448.1:p.Asp151His
XR_001744581.1:n.3189G>C
XR_002956413.1:n.3187G>C
XR_002956414.1:n.3189G>C
NM_001203247.2:c.550G>C	NP_001190176.1:p.Asp184His
NM_001203248.2:c.523G>C	NP_001190177.1:p.Asp175His
NM_001203249.2:c.523G>C	NP_001190178.1:p.Asp175His
NM_004456.5:c.550G>C MANE Select	NP_004447.2:p.Asp184His
NM_152998.3:c.433G>C	NP_694543.1:p.Asp145His