Canonical Allele Identifier: CA172168

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810334A>G , CM000669.2:g.148810334A>G	GRCh38
NC_000007.13:g.148507426A>G , CM000669.1:g.148507426A>G	GRCh37
NC_000007.12:g.148138359A>G	NCBI36
NG_032043.1:g.79016T>C , LRG_531:g.79016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3928T>C
ENST00000682317.1:c.*1090T>C	ENSP00000508286.1:n.*1090T>C
ENST00000683292.1:c.*924T>C	ENSP00000507503.1:n.*924T>C
ENST00000683293.1:n.3747T>C
ENST00000683744.1:c.*1090T>C	ENSP00000506949.1:n.*1090T>C
ENST00000684300.1:c.*1090T>C	ENSP00000508407.1:n.*1090T>C
ENST00000684400.1:n.2919T>C
ENST00000684436.1:n.2344T>C
ENST00000684510.1:n.2406T>C
ENST00000320356.7:c.2028T>C MANE Select	ENSP00000320147.2:p.Asn676=
ENST00000320356.6:c.2028T>C	ENSP00000320147.2:p.Asn676=
ENST00000350995.6:c.1896T>C	ENSP00000223193.2:p.Asn632=
ENST00000460911.5:c.2013T>C	ENSP00000419711.1:p.Asn671=
ENST00000469631.1:n.280T>C
ENST00000476773.5:c.1860T>C	ENSP00000419050.1:p.Asn620=
ENST00000478654.5:c.1860T>C	ENSP00000417062.1:p.Asn620=
ENST00000483967.5:c.1986T>C	ENSP00000419856.1:p.Asn662=
ENST00000492143.5:c.*2018T>C	ENSP00000417377.1:n.*2018T>C
NM_001203247.1:c.2013T>C	NP_001190176.1:p.Asn671=
NM_001203248.1:c.1986T>C	NP_001190177.1:p.Asn662=
NM_001203249.1:c.1860T>C	NP_001190178.1:p.Asn620=
NM_004456.4:c.2028T>C , LRG_531t1:c.2028T>C	NP_004447.2:p.Asn676=
NM_152998.2:c.1896T>C	NP_694543.1:p.Asn632=
XM_005249962.3:c.2037T>C	XP_005250019.1:p.Asn679=
XM_005249963.3:c.2010T>C	XP_005250020.1:p.Asn670=
XM_005249964.3:c.1884T>C	XP_005250021.1:p.Asn628=
XM_011515883.1:c.2052T>C	XP_011514185.1:p.Asn684=
XM_011515884.1:c.2028T>C	XP_011514186.1:p.Asn676=
XM_011515885.1:c.2025T>C	XP_011514187.1:p.Asn675=
XM_011515886.1:c.2004T>C	XP_011514188.1:p.Asn668=
XM_011515887.1:c.2001T>C	XP_011514189.1:p.Asn667=
XM_011515888.1:c.2001T>C	XP_011514190.1:p.Asn667=
XM_011515889.1:c.1962T>C	XP_011514191.1:p.Asn654=
XM_011515890.1:c.1935T>C	XP_011514192.1:p.Asn645=
XM_011515891.1:c.1929T>C	XP_011514193.1:p.Asn643=
XM_011515892.1:c.1926T>C	XP_011514194.1:p.Asn642=
XM_011515893.1:c.1920T>C	XP_011514195.1:p.Asn640=
XM_011515894.1:c.1911T>C	XP_011514196.1:p.Asn637=
XM_011515895.1:c.1908T>C	XP_011514197.1:p.Asn636=
XM_011515896.1:c.1794T>C	XP_011514198.1:p.Asn598=
XM_011515897.1:c.1701T>C	XP_011514199.1:p.Asn567=
XM_011515898.1:c.1701T>C	XP_011514200.1:p.Asn567=
XR_928101.1:n.515+5249A>G
XR_928102.1:n.722+5249A>G
XM_005249962.4:c.2037T>C	XP_005250019.1:p.Asn679=
XM_005249963.4:c.2010T>C	XP_005250020.1:p.Asn670=
XM_005249964.4:c.1884T>C	XP_005250021.1:p.Asn628=
XM_011515883.2:c.2052T>C	XP_011514185.1:p.Asn684=
XM_011515884.2:c.2028T>C	XP_011514186.1:p.Asn676=
XM_011515885.2:c.2025T>C	XP_011514187.1:p.Asn675=
XM_011515886.2:c.2004T>C	XP_011514188.1:p.Asn668=
XM_011515887.3:c.2001T>C	XP_011514189.1:p.Asn667=
XM_011515888.2:c.2001T>C	XP_011514190.1:p.Asn667=
XM_011515889.2:c.1962T>C	XP_011514191.1:p.Asn654=
XM_011515890.2:c.1935T>C	XP_011514192.1:p.Asn645=
XM_011515891.3:c.1929T>C	XP_011514193.1:p.Asn643=
XM_011515892.2:c.1926T>C	XP_011514194.1:p.Asn642=
XM_011515893.2:c.1920T>C	XP_011514195.1:p.Asn640=
XM_011515894.2:c.1911T>C	XP_011514196.1:p.Asn637=
XM_011515895.2:c.1908T>C	XP_011514197.1:p.Asn636=
XM_011515896.2:c.1794T>C	XP_011514198.1:p.Asn598=
XM_011515897.2:c.1701T>C	XP_011514199.1:p.Asn567=
XM_011515898.2:c.1701T>C	XP_011514200.1:p.Asn567=
XM_017011817.2:c.2052T>C	XP_016867306.1:p.Asn684=
XM_017011818.1:c.1989T>C	XP_016867307.1:p.Asn663=
XM_017011819.1:c.1911T>C	XP_016867308.1:p.Asn637=
XM_017011820.2:c.1884T>C	XP_016867309.1:p.Asn628=
XM_017011821.1:c.1686T>C	XP_016867310.1:p.Asn562=
XM_024446680.1:c.1914T>C	XP_024302448.1:p.Asn638=
XR_001744581.1:n.4402T>C
XR_002956413.1:n.5058T>C
XR_002956414.1:n.5518T>C
NM_001203247.2:c.2013T>C	NP_001190176.1:p.Asn671=
NM_001203248.2:c.1986T>C	NP_001190177.1:p.Asn662=
NM_001203249.2:c.1860T>C	NP_001190178.1:p.Asn620=
NM_004456.5:c.2028T>C MANE Select	NP_004447.2:p.Asn676=
NM_152998.3:c.1896T>C	NP_694543.1:p.Asn632=