Canonical Allele Identifier: CA369712619

Gene: EZH2

Linked Data

• gnomAD v4: 7-148810368-T-C
• MyVariant Identifiers: chr7:g.148507460T>C (hg19) ; chr7:g.148810368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810368T>C , CM000669.2:g.148810368T>C	GRCh38
NC_000007.13:g.148507460T>C , CM000669.1:g.148507460T>C	GRCh37
NC_000007.12:g.148138393T>C	NCBI36
NG_032043.1:g.78982A>G , LRG_531:g.78982A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3894A>G
ENST00000682317.1:c.*1056A>G	ENSP00000508286.1:n.*1056A>G
ENST00000683292.1:c.*890A>G	ENSP00000507503.1:n.*890A>G
ENST00000683293.1:n.3713A>G
ENST00000683744.1:c.*1056A>G	ENSP00000506949.1:n.*1056A>G
ENST00000684300.1:c.*1056A>G	ENSP00000508407.1:n.*1056A>G
ENST00000684400.1:n.2885A>G
ENST00000684436.1:n.2310A>G
ENST00000684510.1:n.2372A>G
ENST00000320356.7:c.1994A>G MANE Select	ENSP00000320147.2:p.Lys665Arg
ENST00000320356.6:c.1994A>G	ENSP00000320147.2:p.Lys665Arg
ENST00000350995.6:c.1862A>G	ENSP00000223193.2:p.Lys621Arg
ENST00000460911.5:c.1979A>G	ENSP00000419711.1:p.Lys660Arg
ENST00000469631.1:n.246A>G
ENST00000476773.5:c.1826A>G	ENSP00000419050.1:p.Lys609Arg
ENST00000478654.5:c.1826A>G	ENSP00000417062.1:p.Lys609Arg
ENST00000483967.5:c.1952A>G	ENSP00000419856.1:p.Lys651Arg
ENST00000492143.5:c.*1984A>G	ENSP00000417377.1:n.*1984A>G
NM_001203247.1:c.1979A>G	NP_001190176.1:p.Lys660Arg
NM_001203248.1:c.1952A>G	NP_001190177.1:p.Lys651Arg
NM_001203249.1:c.1826A>G	NP_001190178.1:p.Lys609Arg
NM_004456.4:c.1994A>G , LRG_531t1:c.1994A>G	NP_004447.2:p.Lys665Arg
NM_152998.2:c.1862A>G	NP_694543.1:p.Lys621Arg
XM_005249962.3:c.2003A>G	XP_005250019.1:p.Lys668Arg
XM_005249963.3:c.1976A>G	XP_005250020.1:p.Lys659Arg
XM_005249964.3:c.1850A>G	XP_005250021.1:p.Lys617Arg
XM_011515883.1:c.2018A>G	XP_011514185.1:p.Lys673Arg
XM_011515884.1:c.1994A>G	XP_011514186.1:p.Lys665Arg
XM_011515885.1:c.1991A>G	XP_011514187.1:p.Lys664Arg
XM_011515886.1:c.1970A>G	XP_011514188.1:p.Lys657Arg
XM_011515887.1:c.1967A>G	XP_011514189.1:p.Lys656Arg
XM_011515888.1:c.1967A>G	XP_011514190.1:p.Lys656Arg
XM_011515889.1:c.1928A>G	XP_011514191.1:p.Lys643Arg
XM_011515890.1:c.1901A>G	XP_011514192.1:p.Lys634Arg
XM_011515891.1:c.1895A>G	XP_011514193.1:p.Lys632Arg
XM_011515892.1:c.1892A>G	XP_011514194.1:p.Lys631Arg
XM_011515893.1:c.1886A>G	XP_011514195.1:p.Lys629Arg
XM_011515894.1:c.1877A>G	XP_011514196.1:p.Lys626Arg
XM_011515895.1:c.1874A>G	XP_011514197.1:p.Lys625Arg
XM_011515896.1:c.1760A>G	XP_011514198.1:p.Lys587Arg
XM_011515897.1:c.1667A>G	XP_011514199.1:p.Lys556Arg
XM_011515898.1:c.1667A>G	XP_011514200.1:p.Lys556Arg
XR_928101.1:n.515+5283T>C
XR_928102.1:n.722+5283T>C
XM_005249962.4:c.2003A>G	XP_005250019.1:p.Lys668Arg
XM_005249963.4:c.1976A>G	XP_005250020.1:p.Lys659Arg
XM_005249964.4:c.1850A>G	XP_005250021.1:p.Lys617Arg
XM_011515883.2:c.2018A>G	XP_011514185.1:p.Lys673Arg
XM_011515884.2:c.1994A>G	XP_011514186.1:p.Lys665Arg
XM_011515885.2:c.1991A>G	XP_011514187.1:p.Lys664Arg
XM_011515886.2:c.1970A>G	XP_011514188.1:p.Lys657Arg
XM_011515887.3:c.1967A>G	XP_011514189.1:p.Lys656Arg
XM_011515888.2:c.1967A>G	XP_011514190.1:p.Lys656Arg
XM_011515889.2:c.1928A>G	XP_011514191.1:p.Lys643Arg
XM_011515890.2:c.1901A>G	XP_011514192.1:p.Lys634Arg
XM_011515891.3:c.1895A>G	XP_011514193.1:p.Lys632Arg
XM_011515892.2:c.1892A>G	XP_011514194.1:p.Lys631Arg
XM_011515893.2:c.1886A>G	XP_011514195.1:p.Lys629Arg
XM_011515894.2:c.1877A>G	XP_011514196.1:p.Lys626Arg
XM_011515895.2:c.1874A>G	XP_011514197.1:p.Lys625Arg
XM_011515896.2:c.1760A>G	XP_011514198.1:p.Lys587Arg
XM_011515897.2:c.1667A>G	XP_011514199.1:p.Lys556Arg
XM_011515898.2:c.1667A>G	XP_011514200.1:p.Lys556Arg
XM_017011817.2:c.2018A>G	XP_016867306.1:p.Lys673Arg
XM_017011818.1:c.1955A>G	XP_016867307.1:p.Lys652Arg
XM_017011819.1:c.1877A>G	XP_016867308.1:p.Lys626Arg
XM_017011820.2:c.1850A>G	XP_016867309.1:p.Lys617Arg
XM_017011821.1:c.1652A>G	XP_016867310.1:p.Lys551Arg
XM_024446680.1:c.1880A>G	XP_024302448.1:p.Lys627Arg
XR_001744581.1:n.4368A>G
XR_002956413.1:n.5024A>G
XR_002956414.1:n.5484A>G
NM_001203247.2:c.1979A>G	NP_001190176.1:p.Lys660Arg
NM_001203248.2:c.1952A>G	NP_001190177.1:p.Lys651Arg
NM_001203249.2:c.1826A>G	NP_001190178.1:p.Lys609Arg
NM_004456.5:c.1994A>G MANE Select	NP_004447.2:p.Lys665Arg
NM_152998.3:c.1862A>G	NP_694543.1:p.Lys621Arg