Canonical Allele Identifier: CA369711791

Gene: EZH2

Linked Data

• dbSNP Id: rs2129465312
• gnomAD v4: 7-148807674-C-A
• MyVariant Identifiers: chr7:g.148504766C>A (hg19) ; chr7:g.148807674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807674C>A , CM000669.2:g.148807674C>A	GRCh38
NC_000007.13:g.148504766C>A , CM000669.1:g.148504766C>A	GRCh37
NC_000007.12:g.148135699C>A	NCBI36
NG_032043.1:g.81676G>T , LRG_531:g.81676G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4128G>T
ENST00000682317.1:c.*1290G>T	ENSP00000508286.1:n.*1290G>T
ENST00000683292.1:c.*1124G>T	ENSP00000507503.1:n.*1124G>T
ENST00000683293.1:n.3947G>T
ENST00000683744.1:c.*1290G>T	ENSP00000506949.1:n.*1290G>T
ENST00000684300.1:c.*1290G>T	ENSP00000508407.1:n.*1290G>T
ENST00000684400.1:n.4215G>T
ENST00000684436.1:n.2544G>T
ENST00000684510.1:n.2606G>T
ENST00000320356.7:c.2228G>T MANE Select	ENSP00000320147.2:p.Gly743Val
ENST00000320356.6:c.2228G>T	ENSP00000320147.2:p.Gly743Val
ENST00000350995.6:c.2096G>T	ENSP00000223193.2:p.Gly699Val
ENST00000460911.5:c.2213G>T	ENSP00000419711.1:p.Gly738Val
ENST00000476773.5:c.2060G>T	ENSP00000419050.1:p.Gly687Val
ENST00000478654.5:c.2060G>T	ENSP00000417062.1:p.Gly687Val
ENST00000483967.5:c.2186G>T	ENSP00000419856.1:p.Gly729Val
ENST00000492143.5:c.*2218G>T	ENSP00000417377.1:n.*2218G>T
NM_001203247.1:c.2213G>T	NP_001190176.1:p.Gly738Val
NM_001203248.1:c.2186G>T	NP_001190177.1:p.Gly729Val
NM_001203249.1:c.2060G>T	NP_001190178.1:p.Gly687Val
NM_004456.4:c.2228G>T , LRG_531t1:c.2228G>T	NP_004447.2:p.Gly743Val
NM_152998.2:c.2096G>T	NP_694543.1:p.Gly699Val
XM_005249962.3:c.2237G>T	XP_005250019.1:p.Gly746Val
XM_005249963.3:c.2210G>T	XP_005250020.1:p.Gly737Val
XM_005249964.3:c.2084G>T	XP_005250021.1:p.Gly695Val
XM_011515883.1:c.2252G>T	XP_011514185.1:p.Gly751Val
XM_011515884.1:c.2228G>T	XP_011514186.1:p.Gly743Val
XM_011515885.1:c.2225G>T	XP_011514187.1:p.Gly742Val
XM_011515886.1:c.2204G>T	XP_011514188.1:p.Gly735Val
XM_011515887.1:c.2201G>T	XP_011514189.1:p.Gly734Val
XM_011515888.1:c.2201G>T	XP_011514190.1:p.Gly734Val
XM_011515889.1:c.2162G>T	XP_011514191.1:p.Gly721Val
XM_011515890.1:c.2135G>T	XP_011514192.1:p.Gly712Val
XM_011515891.1:c.2129G>T	XP_011514193.1:p.Gly710Val
XM_011515892.1:c.2126G>T	XP_011514194.1:p.Gly709Val
XM_011515893.1:c.2120G>T	XP_011514195.1:p.Gly707Val
XM_011515894.1:c.2111G>T	XP_011514196.1:p.Gly704Val
XM_011515895.1:c.2108G>T	XP_011514197.1:p.Gly703Val
XM_011515896.1:c.1994G>T	XP_011514198.1:p.Gly665Val
XM_011515897.1:c.1901G>T	XP_011514199.1:p.Gly634Val
XM_011515898.1:c.1901G>T	XP_011514200.1:p.Gly634Val
XR_928101.1:n.515+2589C>A
XR_928102.1:n.722+2589C>A
XM_005249962.4:c.2237G>T	XP_005250019.1:p.Gly746Val
XM_005249963.4:c.2210G>T	XP_005250020.1:p.Gly737Val
XM_005249964.4:c.2084G>T	XP_005250021.1:p.Gly695Val
XM_011515883.2:c.2252G>T	XP_011514185.1:p.Gly751Val
XM_011515884.2:c.2228G>T	XP_011514186.1:p.Gly743Val
XM_011515885.2:c.2225G>T	XP_011514187.1:p.Gly742Val
XM_011515886.2:c.2204G>T	XP_011514188.1:p.Gly735Val
XM_011515887.3:c.2201G>T	XP_011514189.1:p.Gly734Val
XM_011515888.2:c.2201G>T	XP_011514190.1:p.Gly734Val
XM_011515889.2:c.2162G>T	XP_011514191.1:p.Gly721Val
XM_011515890.2:c.2135G>T	XP_011514192.1:p.Gly712Val
XM_011515891.3:c.2129G>T	XP_011514193.1:p.Gly710Val
XM_011515892.2:c.2126G>T	XP_011514194.1:p.Gly709Val
XM_011515893.2:c.2120G>T	XP_011514195.1:p.Gly707Val
XM_011515894.2:c.2111G>T	XP_011514196.1:p.Gly704Val
XM_011515895.2:c.2108G>T	XP_011514197.1:p.Gly703Val
XM_011515896.2:c.1994G>T	XP_011514198.1:p.Gly665Val
XM_011515897.2:c.1901G>T	XP_011514199.1:p.Gly634Val
XM_011515898.2:c.1901G>T	XP_011514200.1:p.Gly634Val
XM_017011817.2:c.2252G>T	XP_016867306.1:p.Gly751Val
XM_017011818.1:c.2189G>T	XP_016867307.1:p.Gly730Val
XM_017011819.1:c.2111G>T	XP_016867308.1:p.Gly704Val
XM_017011820.2:c.2084G>T	XP_016867309.1:p.Gly695Val
XM_017011821.1:c.1886G>T	XP_016867310.1:p.Gly629Val
XM_024446680.1:c.2114G>T	XP_024302448.1:p.Gly705Val
XR_001744581.1:n.4602G>T
XR_002956413.1:n.5258G>T
XR_002956414.1:n.5718G>T
NM_001203247.2:c.2213G>T	NP_001190176.1:p.Gly738Val
NM_001203248.2:c.2186G>T	NP_001190177.1:p.Gly729Val
NM_001203249.2:c.2060G>T	NP_001190178.1:p.Gly687Val
NM_004456.5:c.2228G>T MANE Select	NP_004447.2:p.Gly743Val
NM_152998.3:c.2096G>T	NP_694543.1:p.Gly699Val