Canonical Allele Identifier: CA369712244
Community Standard Title: NM_004456.5(EZH2):c.2075C>T (p.Ala692Val)
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148809345G>A , CM000669.2:g.148809345G>A GRCh38
NC_000007.13:g.148506437G>A , CM000669.1:g.148506437G>A GRCh37
NC_000007.12:g.148137370G>A NCBI36
NG_032043.1:g.80005C>T , LRG_531:g.80005C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.2075C>T MANE Select NP_004447.2:p.Ala692Val
ENST00000320356.7:c.2075C>T MANE Select ENSP00000320147.2:p.Ala692Val
NM_001203247.1:c.2060C>T NP_001190176.1:p.Ala687Val
NM_001203247.2:c.2060C>T NP_001190176.1:p.Ala687Val
NM_001203248.1:c.2033C>T NP_001190177.1:p.Ala678Val
NM_001203248.2:c.2033C>T NP_001190177.1:p.Ala678Val
NM_001203249.1:c.1907C>T NP_001190178.1:p.Ala636Val
NM_001203249.2:c.1907C>T NP_001190178.1:p.Ala636Val
NM_004456.4:c.2075C>T , LRG_531t1:c.2075C>T NP_004447.2:p.Ala692Val
NM_152998.2:c.1943C>T NP_694543.1:p.Ala648Val
NM_152998.3:c.1943C>T NP_694543.1:p.Ala648Val
ENST00000320356.6:c.2075C>T ENSP00000320147.2:p.Ala692Val
ENST00000350995.6:c.1943C>T ENSP00000223193.2:p.Ala648Val
ENST00000460911.5:c.2060C>T ENSP00000419711.1:p.Ala687Val
ENST00000476773.5:c.1907C>T ENSP00000419050.1:p.Ala636Val
ENST00000478654.5:c.1907C>T ENSP00000417062.1:p.Ala636Val
ENST00000483967.5:c.2033C>T ENSP00000419856.1:p.Ala678Val
ENST00000492143.5:c.*2065C>T ENSP00000417377.1:n.*2065C>T
ENST00000682263.1:n.3975C>T
ENST00000682317.1:c.*1137C>T ENSP00000508286.1:n.*1137C>T
ENST00000683292.1:c.*971C>T ENSP00000507503.1:n.*971C>T
ENST00000683293.1:n.3794C>T
ENST00000683744.1:c.*1137C>T ENSP00000506949.1:n.*1137C>T
ENST00000684300.1:c.*1137C>T ENSP00000508407.1:n.*1137C>T
ENST00000684400.1:n.3908C>T
ENST00000684436.1:n.2391C>T
ENST00000684510.1:n.2453C>T
XM_005249962.3:c.2084C>T XP_005250019.1:p.Ala695Val
XM_005249962.4:c.2084C>T XP_005250019.1:p.Ala695Val
XM_005249963.3:c.2057C>T XP_005250020.1:p.Ala686Val
XM_005249963.4:c.2057C>T XP_005250020.1:p.Ala686Val
XM_005249964.3:c.1931C>T XP_005250021.1:p.Ala644Val
XM_005249964.4:c.1931C>T XP_005250021.1:p.Ala644Val
XM_011515883.1:c.2099C>T XP_011514185.1:p.Ala700Val
XM_011515883.2:c.2099C>T XP_011514185.1:p.Ala700Val
XM_011515884.1:c.2075C>T XP_011514186.1:p.Ala692Val
XM_011515884.2:c.2075C>T XP_011514186.1:p.Ala692Val
XM_011515885.1:c.2072C>T XP_011514187.1:p.Ala691Val
XM_011515885.2:c.2072C>T XP_011514187.1:p.Ala691Val
XM_011515886.1:c.2051C>T XP_011514188.1:p.Ala684Val
XM_011515886.2:c.2051C>T XP_011514188.1:p.Ala684Val
XM_011515887.1:c.2048C>T XP_011514189.1:p.Ala683Val
XM_011515887.3:c.2048C>T XP_011514189.1:p.Ala683Val
XM_011515888.1:c.2048C>T XP_011514190.1:p.Ala683Val
XM_011515888.2:c.2048C>T XP_011514190.1:p.Ala683Val
XM_011515889.1:c.2009C>T XP_011514191.1:p.Ala670Val
XM_011515889.2:c.2009C>T XP_011514191.1:p.Ala670Val
XM_011515890.1:c.1982C>T XP_011514192.1:p.Ala661Val
XM_011515890.2:c.1982C>T XP_011514192.1:p.Ala661Val
XM_011515891.1:c.1976C>T XP_011514193.1:p.Ala659Val
XM_011515891.3:c.1976C>T XP_011514193.1:p.Ala659Val
XM_011515892.1:c.1973C>T XP_011514194.1:p.Ala658Val
XM_011515892.2:c.1973C>T XP_011514194.1:p.Ala658Val
XM_011515893.1:c.1967C>T XP_011514195.1:p.Ala656Val
XM_011515893.2:c.1967C>T XP_011514195.1:p.Ala656Val
XM_011515894.1:c.1958C>T XP_011514196.1:p.Ala653Val
XM_011515894.2:c.1958C>T XP_011514196.1:p.Ala653Val
XM_011515895.1:c.1955C>T XP_011514197.1:p.Ala652Val
XM_011515895.2:c.1955C>T XP_011514197.1:p.Ala652Val
XM_011515896.1:c.1841C>T XP_011514198.1:p.Ala614Val
XM_011515896.2:c.1841C>T XP_011514198.1:p.Ala614Val
XM_011515897.1:c.1748C>T XP_011514199.1:p.Ala583Val
XM_011515897.2:c.1748C>T XP_011514199.1:p.Ala583Val
XM_011515898.1:c.1748C>T XP_011514200.1:p.Ala583Val
XM_011515898.2:c.1748C>T XP_011514200.1:p.Ala583Val
XM_017011817.2:c.2099C>T XP_016867306.1:p.Ala700Val
XM_017011818.1:c.2036C>T XP_016867307.1:p.Ala679Val
XM_017011819.1:c.1958C>T XP_016867308.1:p.Ala653Val
XM_017011820.2:c.1931C>T XP_016867309.1:p.Ala644Val
XM_017011821.1:c.1733C>T XP_016867310.1:p.Ala578Val
XM_024446680.1:c.1961C>T XP_024302448.1:p.Ala654Val
XR_001744581.1:n.4449C>T
XR_002956413.1:n.5105C>T
XR_002956414.1:n.5565C>T
XR_928101.1:n.515+4260G>A
XR_928102.1:n.722+4260G>A