Canonical Allele Identifier: CA369711782

Gene: EZH2

Linked Data

• ClinVar Variation Id: 2663660
• ClinVar RCV Id: RCV003443376
• gnomAD v4: 7-148807669-C-A
• MyVariant Identifiers: chr7:g.148504761C>A (hg19) ; chr7:g.148807669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807669C>A , CM000669.2:g.148807669C>A	GRCh38
NC_000007.13:g.148504761C>A , CM000669.1:g.148504761C>A	GRCh37
NC_000007.12:g.148135694C>A	NCBI36
NG_032043.1:g.81681G>T , LRG_531:g.81681G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4133G>T
ENST00000682317.1:c.*1295G>T	ENSP00000508286.1:n.*1295G>T
ENST00000683292.1:c.*1129G>T	ENSP00000507503.1:n.*1129G>T
ENST00000683293.1:n.3952G>T
ENST00000683744.1:c.*1295G>T	ENSP00000506949.1:n.*1295G>T
ENST00000684300.1:c.*1295G>T	ENSP00000508407.1:n.*1295G>T
ENST00000684400.1:n.4220G>T
ENST00000684436.1:n.2549G>T
ENST00000684510.1:n.2611G>T
ENST00000320356.7:c.2233G>T MANE Select	ENSP00000320147.2:p.Glu745Ter
ENST00000320356.6:c.2233G>T	ENSP00000320147.2:p.Glu745Ter
ENST00000350995.6:c.2101G>T	ENSP00000223193.2:p.Glu701Ter
ENST00000460911.5:c.2218G>T	ENSP00000419711.1:p.Glu740Ter
ENST00000476773.5:c.2065G>T	ENSP00000419050.1:p.Glu689Ter
ENST00000478654.5:c.2065G>T	ENSP00000417062.1:p.Glu689Ter
ENST00000483967.5:c.2191G>T	ENSP00000419856.1:p.Glu731Ter
ENST00000492143.5:c.*2223G>T	ENSP00000417377.1:n.*2223G>T
NM_001203247.1:c.2218G>T	NP_001190176.1:p.Glu740Ter
NM_001203248.1:c.2191G>T	NP_001190177.1:p.Glu731Ter
NM_001203249.1:c.2065G>T	NP_001190178.1:p.Glu689Ter
NM_004456.4:c.2233G>T , LRG_531t1:c.2233G>T	NP_004447.2:p.Glu745Ter
NM_152998.2:c.2101G>T	NP_694543.1:p.Glu701Ter
XM_005249962.3:c.2242G>T	XP_005250019.1:p.Glu748Ter
XM_005249963.3:c.2215G>T	XP_005250020.1:p.Glu739Ter
XM_005249964.3:c.2089G>T	XP_005250021.1:p.Glu697Ter
XM_011515883.1:c.2257G>T	XP_011514185.1:p.Glu753Ter
XM_011515884.1:c.2233G>T	XP_011514186.1:p.Glu745Ter
XM_011515885.1:c.2230G>T	XP_011514187.1:p.Glu744Ter
XM_011515886.1:c.2209G>T	XP_011514188.1:p.Glu737Ter
XM_011515887.1:c.2206G>T	XP_011514189.1:p.Glu736Ter
XM_011515888.1:c.2206G>T	XP_011514190.1:p.Glu736Ter
XM_011515889.1:c.2167G>T	XP_011514191.1:p.Glu723Ter
XM_011515890.1:c.2140G>T	XP_011514192.1:p.Glu714Ter
XM_011515891.1:c.2134G>T	XP_011514193.1:p.Glu712Ter
XM_011515892.1:c.2131G>T	XP_011514194.1:p.Glu711Ter
XM_011515893.1:c.2125G>T	XP_011514195.1:p.Glu709Ter
XM_011515894.1:c.2116G>T	XP_011514196.1:p.Glu706Ter
XM_011515895.1:c.2113G>T	XP_011514197.1:p.Glu705Ter
XM_011515896.1:c.1999G>T	XP_011514198.1:p.Glu667Ter
XM_011515897.1:c.1906G>T	XP_011514199.1:p.Glu636Ter
XM_011515898.1:c.1906G>T	XP_011514200.1:p.Glu636Ter
XR_928101.1:n.515+2584C>A
XR_928102.1:n.722+2584C>A
XM_005249962.4:c.2242G>T	XP_005250019.1:p.Glu748Ter
XM_005249963.4:c.2215G>T	XP_005250020.1:p.Glu739Ter
XM_005249964.4:c.2089G>T	XP_005250021.1:p.Glu697Ter
XM_011515883.2:c.2257G>T	XP_011514185.1:p.Glu753Ter
XM_011515884.2:c.2233G>T	XP_011514186.1:p.Glu745Ter
XM_011515885.2:c.2230G>T	XP_011514187.1:p.Glu744Ter
XM_011515886.2:c.2209G>T	XP_011514188.1:p.Glu737Ter
XM_011515887.3:c.2206G>T	XP_011514189.1:p.Glu736Ter
XM_011515888.2:c.2206G>T	XP_011514190.1:p.Glu736Ter
XM_011515889.2:c.2167G>T	XP_011514191.1:p.Glu723Ter
XM_011515890.2:c.2140G>T	XP_011514192.1:p.Glu714Ter
XM_011515891.3:c.2134G>T	XP_011514193.1:p.Glu712Ter
XM_011515892.2:c.2131G>T	XP_011514194.1:p.Glu711Ter
XM_011515893.2:c.2125G>T	XP_011514195.1:p.Glu709Ter
XM_011515894.2:c.2116G>T	XP_011514196.1:p.Glu706Ter
XM_011515895.2:c.2113G>T	XP_011514197.1:p.Glu705Ter
XM_011515896.2:c.1999G>T	XP_011514198.1:p.Glu667Ter
XM_011515897.2:c.1906G>T	XP_011514199.1:p.Glu636Ter
XM_011515898.2:c.1906G>T	XP_011514200.1:p.Glu636Ter
XM_017011817.2:c.2257G>T	XP_016867306.1:p.Glu753Ter
XM_017011818.1:c.2194G>T	XP_016867307.1:p.Glu732Ter
XM_017011819.1:c.2116G>T	XP_016867308.1:p.Glu706Ter
XM_017011820.2:c.2089G>T	XP_016867309.1:p.Glu697Ter
XM_017011821.1:c.1891G>T	XP_016867310.1:p.Glu631Ter
XM_024446680.1:c.2119G>T	XP_024302448.1:p.Glu707Ter
XR_001744581.1:n.4607G>T
XR_002956413.1:n.5263G>T
XR_002956414.1:n.5723G>T
NM_001203247.2:c.2218G>T	NP_001190176.1:p.Glu740Ter
NM_001203248.2:c.2191G>T	NP_001190177.1:p.Glu731Ter
NM_001203249.2:c.2065G>T	NP_001190178.1:p.Glu689Ter
NM_004456.5:c.2233G>T MANE Select	NP_004447.2:p.Glu745Ter
NM_152998.3:c.2101G>T	NP_694543.1:p.Glu701Ter