Canonical Allele Identifier: CA4547714

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809380C>T , CM000669.2:g.148809380C>T	GRCh38
NC_000007.13:g.148506472C>T , CM000669.1:g.148506472C>T	GRCh37
NC_000007.12:g.148137405C>T	NCBI36
NG_032043.1:g.79970G>A , LRG_531:g.79970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3940G>A
ENST00000682317.1:c.*1102G>A	ENSP00000508286.1:n.*1102G>A
ENST00000683292.1:c.*936G>A	ENSP00000507503.1:n.*936G>A
ENST00000683293.1:n.3759G>A
ENST00000683744.1:c.*1102G>A	ENSP00000506949.1:n.*1102G>A
ENST00000684300.1:c.*1102G>A	ENSP00000508407.1:n.*1102G>A
ENST00000684400.1:n.3873G>A
ENST00000684436.1:n.2356G>A
ENST00000684510.1:n.2418G>A
ENST00000320356.7:c.2040G>A MANE Select	ENSP00000320147.2:p.Val680=
ENST00000320356.6:c.2040G>A	ENSP00000320147.2:p.Val680=
ENST00000350995.6:c.1908G>A	ENSP00000223193.2:p.Val636=
ENST00000460911.5:c.2025G>A	ENSP00000419711.1:p.Val675=
ENST00000476773.5:c.1872G>A	ENSP00000419050.1:p.Val624=
ENST00000478654.5:c.1872G>A	ENSP00000417062.1:p.Val624=
ENST00000483967.5:c.1998G>A	ENSP00000419856.1:p.Val666=
ENST00000492143.5:c.*2030G>A	ENSP00000417377.1:n.*2030G>A
NM_001203247.1:c.2025G>A	NP_001190176.1:p.Val675=
NM_001203248.1:c.1998G>A	NP_001190177.1:p.Val666=
NM_001203249.1:c.1872G>A	NP_001190178.1:p.Val624=
NM_004456.4:c.2040G>A , LRG_531t1:c.2040G>A	NP_004447.2:p.Val680=
NM_152998.2:c.1908G>A	NP_694543.1:p.Val636=
XM_005249962.3:c.2049G>A	XP_005250019.1:p.Val683=
XM_005249963.3:c.2022G>A	XP_005250020.1:p.Val674=
XM_005249964.3:c.1896G>A	XP_005250021.1:p.Val632=
XM_011515883.1:c.2064G>A	XP_011514185.1:p.Val688=
XM_011515884.1:c.2040G>A	XP_011514186.1:p.Val680=
XM_011515885.1:c.2037G>A	XP_011514187.1:p.Val679=
XM_011515886.1:c.2016G>A	XP_011514188.1:p.Val672=
XM_011515887.1:c.2013G>A	XP_011514189.1:p.Val671=
XM_011515888.1:c.2013G>A	XP_011514190.1:p.Val671=
XM_011515889.1:c.1974G>A	XP_011514191.1:p.Val658=
XM_011515890.1:c.1947G>A	XP_011514192.1:p.Val649=
XM_011515891.1:c.1941G>A	XP_011514193.1:p.Val647=
XM_011515892.1:c.1938G>A	XP_011514194.1:p.Val646=
XM_011515893.1:c.1932G>A	XP_011514195.1:p.Val644=
XM_011515894.1:c.1923G>A	XP_011514196.1:p.Val641=
XM_011515895.1:c.1920G>A	XP_011514197.1:p.Val640=
XM_011515896.1:c.1806G>A	XP_011514198.1:p.Val602=
XM_011515897.1:c.1713G>A	XP_011514199.1:p.Val571=
XM_011515898.1:c.1713G>A	XP_011514200.1:p.Val571=
XR_928101.1:n.515+4295C>T
XR_928102.1:n.722+4295C>T
XM_005249962.4:c.2049G>A	XP_005250019.1:p.Val683=
XM_005249963.4:c.2022G>A	XP_005250020.1:p.Val674=
XM_005249964.4:c.1896G>A	XP_005250021.1:p.Val632=
XM_011515883.2:c.2064G>A	XP_011514185.1:p.Val688=
XM_011515884.2:c.2040G>A	XP_011514186.1:p.Val680=
XM_011515885.2:c.2037G>A	XP_011514187.1:p.Val679=
XM_011515886.2:c.2016G>A	XP_011514188.1:p.Val672=
XM_011515887.3:c.2013G>A	XP_011514189.1:p.Val671=
XM_011515888.2:c.2013G>A	XP_011514190.1:p.Val671=
XM_011515889.2:c.1974G>A	XP_011514191.1:p.Val658=
XM_011515890.2:c.1947G>A	XP_011514192.1:p.Val649=
XM_011515891.3:c.1941G>A	XP_011514193.1:p.Val647=
XM_011515892.2:c.1938G>A	XP_011514194.1:p.Val646=
XM_011515893.2:c.1932G>A	XP_011514195.1:p.Val644=
XM_011515894.2:c.1923G>A	XP_011514196.1:p.Val641=
XM_011515895.2:c.1920G>A	XP_011514197.1:p.Val640=
XM_011515896.2:c.1806G>A	XP_011514198.1:p.Val602=
XM_011515897.2:c.1713G>A	XP_011514199.1:p.Val571=
XM_011515898.2:c.1713G>A	XP_011514200.1:p.Val571=
XM_017011817.2:c.2064G>A	XP_016867306.1:p.Val688=
XM_017011818.1:c.2001G>A	XP_016867307.1:p.Val667=
XM_017011819.1:c.1923G>A	XP_016867308.1:p.Val641=
XM_017011820.2:c.1896G>A	XP_016867309.1:p.Val632=
XM_017011821.1:c.1698G>A	XP_016867310.1:p.Val566=
XM_024446680.1:c.1926G>A	XP_024302448.1:p.Val642=
XR_001744581.1:n.4414G>A
XR_002956413.1:n.5070G>A
XR_002956414.1:n.5530G>A
NM_001203247.2:c.2025G>A	NP_001190176.1:p.Val675=
NM_001203248.2:c.1998G>A	NP_001190177.1:p.Val666=
NM_001203249.2:c.1872G>A	NP_001190178.1:p.Val624=
NM_004456.5:c.2040G>A MANE Select	NP_004447.2:p.Val680=
NM_152998.3:c.1908G>A	NP_694543.1:p.Val636=