Canonical Allele Identifier: CA369711822

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807687-G-T
• MyVariant Identifiers: chr7:g.148504779G>T (hg19) ; chr7:g.148807687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807687G>T , CM000669.2:g.148807687G>T	GRCh38
NC_000007.13:g.148504779G>T , CM000669.1:g.148504779G>T	GRCh37
NC_000007.12:g.148135712G>T	NCBI36
NG_032043.1:g.81663C>A , LRG_531:g.81663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4115C>A
ENST00000682317.1:c.*1277C>A	ENSP00000508286.1:n.*1277C>A
ENST00000683292.1:c.*1111C>A	ENSP00000507503.1:n.*1111C>A
ENST00000683293.1:n.3934C>A
ENST00000683744.1:c.*1277C>A	ENSP00000506949.1:n.*1277C>A
ENST00000684300.1:c.*1277C>A	ENSP00000508407.1:n.*1277C>A
ENST00000684400.1:n.4202C>A
ENST00000684436.1:n.2531C>A
ENST00000684510.1:n.2593C>A
ENST00000320356.7:c.2215C>A MANE Select	ENSP00000320147.2:p.Leu739Met
ENST00000320356.6:c.2215C>A	ENSP00000320147.2:p.Leu739Met
ENST00000350995.6:c.2083C>A	ENSP00000223193.2:p.Leu695Met
ENST00000460911.5:c.2200C>A	ENSP00000419711.1:p.Leu734Met
ENST00000476773.5:c.2047C>A	ENSP00000419050.1:p.Leu683Met
ENST00000478654.5:c.2047C>A	ENSP00000417062.1:p.Leu683Met
ENST00000483967.5:c.2173C>A	ENSP00000419856.1:p.Leu725Met
ENST00000492143.5:c.*2205C>A	ENSP00000417377.1:n.*2205C>A
NM_001203247.1:c.2200C>A	NP_001190176.1:p.Leu734Met
NM_001203248.1:c.2173C>A	NP_001190177.1:p.Leu725Met
NM_001203249.1:c.2047C>A	NP_001190178.1:p.Leu683Met
NM_004456.4:c.2215C>A , LRG_531t1:c.2215C>A	NP_004447.2:p.Leu739Met
NM_152998.2:c.2083C>A	NP_694543.1:p.Leu695Met
XM_005249962.3:c.2224C>A	XP_005250019.1:p.Leu742Met
XM_005249963.3:c.2197C>A	XP_005250020.1:p.Leu733Met
XM_005249964.3:c.2071C>A	XP_005250021.1:p.Leu691Met
XM_011515883.1:c.2239C>A	XP_011514185.1:p.Leu747Met
XM_011515884.1:c.2215C>A	XP_011514186.1:p.Leu739Met
XM_011515885.1:c.2212C>A	XP_011514187.1:p.Leu738Met
XM_011515886.1:c.2191C>A	XP_011514188.1:p.Leu731Met
XM_011515887.1:c.2188C>A	XP_011514189.1:p.Leu730Met
XM_011515888.1:c.2188C>A	XP_011514190.1:p.Leu730Met
XM_011515889.1:c.2149C>A	XP_011514191.1:p.Leu717Met
XM_011515890.1:c.2122C>A	XP_011514192.1:p.Leu708Met
XM_011515891.1:c.2116C>A	XP_011514193.1:p.Leu706Met
XM_011515892.1:c.2113C>A	XP_011514194.1:p.Leu705Met
XM_011515893.1:c.2107C>A	XP_011514195.1:p.Leu703Met
XM_011515894.1:c.2098C>A	XP_011514196.1:p.Leu700Met
XM_011515895.1:c.2095C>A	XP_011514197.1:p.Leu699Met
XM_011515896.1:c.1981C>A	XP_011514198.1:p.Leu661Met
XM_011515897.1:c.1888C>A	XP_011514199.1:p.Leu630Met
XM_011515898.1:c.1888C>A	XP_011514200.1:p.Leu630Met
XR_928101.1:n.515+2602G>T
XR_928102.1:n.722+2602G>T
XM_005249962.4:c.2224C>A	XP_005250019.1:p.Leu742Met
XM_005249963.4:c.2197C>A	XP_005250020.1:p.Leu733Met
XM_005249964.4:c.2071C>A	XP_005250021.1:p.Leu691Met
XM_011515883.2:c.2239C>A	XP_011514185.1:p.Leu747Met
XM_011515884.2:c.2215C>A	XP_011514186.1:p.Leu739Met
XM_011515885.2:c.2212C>A	XP_011514187.1:p.Leu738Met
XM_011515886.2:c.2191C>A	XP_011514188.1:p.Leu731Met
XM_011515887.3:c.2188C>A	XP_011514189.1:p.Leu730Met
XM_011515888.2:c.2188C>A	XP_011514190.1:p.Leu730Met
XM_011515889.2:c.2149C>A	XP_011514191.1:p.Leu717Met
XM_011515890.2:c.2122C>A	XP_011514192.1:p.Leu708Met
XM_011515891.3:c.2116C>A	XP_011514193.1:p.Leu706Met
XM_011515892.2:c.2113C>A	XP_011514194.1:p.Leu705Met
XM_011515893.2:c.2107C>A	XP_011514195.1:p.Leu703Met
XM_011515894.2:c.2098C>A	XP_011514196.1:p.Leu700Met
XM_011515895.2:c.2095C>A	XP_011514197.1:p.Leu699Met
XM_011515896.2:c.1981C>A	XP_011514198.1:p.Leu661Met
XM_011515897.2:c.1888C>A	XP_011514199.1:p.Leu630Met
XM_011515898.2:c.1888C>A	XP_011514200.1:p.Leu630Met
XM_017011817.2:c.2239C>A	XP_016867306.1:p.Leu747Met
XM_017011818.1:c.2176C>A	XP_016867307.1:p.Leu726Met
XM_017011819.1:c.2098C>A	XP_016867308.1:p.Leu700Met
XM_017011820.2:c.2071C>A	XP_016867309.1:p.Leu691Met
XM_017011821.1:c.1873C>A	XP_016867310.1:p.Leu625Met
XM_024446680.1:c.2101C>A	XP_024302448.1:p.Leu701Met
XR_001744581.1:n.4589C>A
XR_002956413.1:n.5245C>A
XR_002956414.1:n.5705C>A
NM_001203247.2:c.2200C>A	NP_001190176.1:p.Leu734Met
NM_001203248.2:c.2173C>A	NP_001190177.1:p.Leu725Met
NM_001203249.2:c.2047C>A	NP_001190178.1:p.Leu683Met
NM_004456.5:c.2215C>A MANE Select	NP_004447.2:p.Leu739Met
NM_152998.3:c.2083C>A	NP_694543.1:p.Leu695Met