Canonical Allele Identifier: CA369711781

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504760T>G (hg19) ; chr7:g.148807668T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807668T>G , CM000669.2:g.148807668T>G	GRCh38
NC_000007.13:g.148504760T>G , CM000669.1:g.148504760T>G	GRCh37
NC_000007.12:g.148135693T>G	NCBI36
NG_032043.1:g.81682A>C , LRG_531:g.81682A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4134A>C
ENST00000682317.1:c.*1296A>C	ENSP00000508286.1:n.*1296A>C
ENST00000683292.1:c.*1130A>C	ENSP00000507503.1:n.*1130A>C
ENST00000683293.1:n.3953A>C
ENST00000683744.1:c.*1296A>C	ENSP00000506949.1:n.*1296A>C
ENST00000684300.1:c.*1296A>C	ENSP00000508407.1:n.*1296A>C
ENST00000684400.1:n.4221A>C
ENST00000684436.1:n.2550A>C
ENST00000684510.1:n.2612A>C
ENST00000320356.7:c.2234A>C MANE Select	ENSP00000320147.2:p.Glu745Ala
ENST00000320356.6:c.2234A>C	ENSP00000320147.2:p.Glu745Ala
ENST00000350995.6:c.2102A>C	ENSP00000223193.2:p.Glu701Ala
ENST00000460911.5:c.2219A>C	ENSP00000419711.1:p.Glu740Ala
ENST00000476773.5:c.2066A>C	ENSP00000419050.1:p.Glu689Ala
ENST00000478654.5:c.2066A>C	ENSP00000417062.1:p.Glu689Ala
ENST00000483967.5:c.2192A>C	ENSP00000419856.1:p.Glu731Ala
ENST00000492143.5:c.*2224A>C	ENSP00000417377.1:n.*2224A>C
NM_001203247.1:c.2219A>C	NP_001190176.1:p.Glu740Ala
NM_001203248.1:c.2192A>C	NP_001190177.1:p.Glu731Ala
NM_001203249.1:c.2066A>C	NP_001190178.1:p.Glu689Ala
NM_004456.4:c.2234A>C , LRG_531t1:c.2234A>C	NP_004447.2:p.Glu745Ala
NM_152998.2:c.2102A>C	NP_694543.1:p.Glu701Ala
XM_005249962.3:c.2243A>C	XP_005250019.1:p.Glu748Ala
XM_005249963.3:c.2216A>C	XP_005250020.1:p.Glu739Ala
XM_005249964.3:c.2090A>C	XP_005250021.1:p.Glu697Ala
XM_011515883.1:c.2258A>C	XP_011514185.1:p.Glu753Ala
XM_011515884.1:c.2234A>C	XP_011514186.1:p.Glu745Ala
XM_011515885.1:c.2231A>C	XP_011514187.1:p.Glu744Ala
XM_011515886.1:c.2210A>C	XP_011514188.1:p.Glu737Ala
XM_011515887.1:c.2207A>C	XP_011514189.1:p.Glu736Ala
XM_011515888.1:c.2207A>C	XP_011514190.1:p.Glu736Ala
XM_011515889.1:c.2168A>C	XP_011514191.1:p.Glu723Ala
XM_011515890.1:c.2141A>C	XP_011514192.1:p.Glu714Ala
XM_011515891.1:c.2135A>C	XP_011514193.1:p.Glu712Ala
XM_011515892.1:c.2132A>C	XP_011514194.1:p.Glu711Ala
XM_011515893.1:c.2126A>C	XP_011514195.1:p.Glu709Ala
XM_011515894.1:c.2117A>C	XP_011514196.1:p.Glu706Ala
XM_011515895.1:c.2114A>C	XP_011514197.1:p.Glu705Ala
XM_011515896.1:c.2000A>C	XP_011514198.1:p.Glu667Ala
XM_011515897.1:c.1907A>C	XP_011514199.1:p.Glu636Ala
XM_011515898.1:c.1907A>C	XP_011514200.1:p.Glu636Ala
XR_928101.1:n.515+2583T>G
XR_928102.1:n.722+2583T>G
XM_005249962.4:c.2243A>C	XP_005250019.1:p.Glu748Ala
XM_005249963.4:c.2216A>C	XP_005250020.1:p.Glu739Ala
XM_005249964.4:c.2090A>C	XP_005250021.1:p.Glu697Ala
XM_011515883.2:c.2258A>C	XP_011514185.1:p.Glu753Ala
XM_011515884.2:c.2234A>C	XP_011514186.1:p.Glu745Ala
XM_011515885.2:c.2231A>C	XP_011514187.1:p.Glu744Ala
XM_011515886.2:c.2210A>C	XP_011514188.1:p.Glu737Ala
XM_011515887.3:c.2207A>C	XP_011514189.1:p.Glu736Ala
XM_011515888.2:c.2207A>C	XP_011514190.1:p.Glu736Ala
XM_011515889.2:c.2168A>C	XP_011514191.1:p.Glu723Ala
XM_011515890.2:c.2141A>C	XP_011514192.1:p.Glu714Ala
XM_011515891.3:c.2135A>C	XP_011514193.1:p.Glu712Ala
XM_011515892.2:c.2132A>C	XP_011514194.1:p.Glu711Ala
XM_011515893.2:c.2126A>C	XP_011514195.1:p.Glu709Ala
XM_011515894.2:c.2117A>C	XP_011514196.1:p.Glu706Ala
XM_011515895.2:c.2114A>C	XP_011514197.1:p.Glu705Ala
XM_011515896.2:c.2000A>C	XP_011514198.1:p.Glu667Ala
XM_011515897.2:c.1907A>C	XP_011514199.1:p.Glu636Ala
XM_011515898.2:c.1907A>C	XP_011514200.1:p.Glu636Ala
XM_017011817.2:c.2258A>C	XP_016867306.1:p.Glu753Ala
XM_017011818.1:c.2195A>C	XP_016867307.1:p.Glu732Ala
XM_017011819.1:c.2117A>C	XP_016867308.1:p.Glu706Ala
XM_017011820.2:c.2090A>C	XP_016867309.1:p.Glu697Ala
XM_017011821.1:c.1892A>C	XP_016867310.1:p.Glu631Ala
XM_024446680.1:c.2120A>C	XP_024302448.1:p.Glu707Ala
XR_001744581.1:n.4608A>C
XR_002956413.1:n.5264A>C
XR_002956414.1:n.5724A>C
NM_001203247.2:c.2219A>C	NP_001190176.1:p.Glu740Ala
NM_001203248.2:c.2192A>C	NP_001190177.1:p.Glu731Ala
NM_001203249.2:c.2066A>C	NP_001190178.1:p.Glu689Ala
NM_004456.5:c.2234A>C MANE Select	NP_004447.2:p.Glu745Ala
NM_152998.3:c.2102A>C	NP_694543.1:p.Glu701Ala