Canonical Allele Identifier: CA369711734

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807650-G-A
• MyVariant Identifiers: chr7:g.148504742G>A (hg19) ; chr7:g.148807650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807650G>A , CM000669.2:g.148807650G>A	GRCh38
NC_000007.13:g.148504742G>A , CM000669.1:g.148504742G>A	GRCh37
NC_000007.12:g.148135675G>A	NCBI36
NG_032043.1:g.81700C>T , LRG_531:g.81700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4152C>T
ENST00000682317.1:c.*1314C>T	ENSP00000508286.1:n.*1314C>T
ENST00000683292.1:c.*1148C>T	ENSP00000507503.1:n.*1148C>T
ENST00000683293.1:n.3971C>T
ENST00000683744.1:c.*1314C>T	ENSP00000506949.1:n.*1314C>T
ENST00000684300.1:c.*1314C>T	ENSP00000508407.1:n.*1314C>T
ENST00000684400.1:n.4239C>T
ENST00000684436.1:n.2568C>T
ENST00000684510.1:n.2630C>T
ENST00000320356.7:c.2252C>T MANE Select	ENSP00000320147.2:p.Pro751Leu
ENST00000320356.6:c.2252C>T	ENSP00000320147.2:p.Pro751Leu
ENST00000350995.6:c.2120C>T	ENSP00000223193.2:p.Pro707Leu
ENST00000460911.5:c.2237C>T	ENSP00000419711.1:p.Pro746Leu
ENST00000476773.5:c.2084C>T	ENSP00000419050.1:p.Pro695Leu
ENST00000478654.5:c.2084C>T	ENSP00000417062.1:p.Pro695Leu
ENST00000483967.5:c.2210C>T	ENSP00000419856.1:p.Pro737Leu
ENST00000492143.5:c.*2242C>T	ENSP00000417377.1:n.*2242C>T
NM_001203247.1:c.2237C>T	NP_001190176.1:p.Pro746Leu
NM_001203248.1:c.2210C>T	NP_001190177.1:p.Pro737Leu
NM_001203249.1:c.2084C>T	NP_001190178.1:p.Pro695Leu
NM_004456.4:c.2252C>T , LRG_531t1:c.2252C>T	NP_004447.2:p.Pro751Leu
NM_152998.2:c.2120C>T	NP_694543.1:p.Pro707Leu
XM_005249962.3:c.2261C>T	XP_005250019.1:p.Pro754Leu
XM_005249963.3:c.2234C>T	XP_005250020.1:p.Pro745Leu
XM_005249964.3:c.2108C>T	XP_005250021.1:p.Pro703Leu
XM_011515883.1:c.2276C>T	XP_011514185.1:p.Pro759Leu
XM_011515884.1:c.2252C>T	XP_011514186.1:p.Pro751Leu
XM_011515885.1:c.2249C>T	XP_011514187.1:p.Pro750Leu
XM_011515886.1:c.2228C>T	XP_011514188.1:p.Pro743Leu
XM_011515887.1:c.2225C>T	XP_011514189.1:p.Pro742Leu
XM_011515888.1:c.2225C>T	XP_011514190.1:p.Pro742Leu
XM_011515889.1:c.2186C>T	XP_011514191.1:p.Pro729Leu
XM_011515890.1:c.2159C>T	XP_011514192.1:p.Pro720Leu
XM_011515891.1:c.2153C>T	XP_011514193.1:p.Pro718Leu
XM_011515892.1:c.2150C>T	XP_011514194.1:p.Pro717Leu
XM_011515893.1:c.2144C>T	XP_011514195.1:p.Pro715Leu
XM_011515894.1:c.2135C>T	XP_011514196.1:p.Pro712Leu
XM_011515895.1:c.2132C>T	XP_011514197.1:p.Pro711Leu
XM_011515896.1:c.2018C>T	XP_011514198.1:p.Pro673Leu
XM_011515897.1:c.1925C>T	XP_011514199.1:p.Pro642Leu
XM_011515898.1:c.1925C>T	XP_011514200.1:p.Pro642Leu
XR_928101.1:n.515+2565G>A
XR_928102.1:n.722+2565G>A
XM_005249962.4:c.2261C>T	XP_005250019.1:p.Pro754Leu
XM_005249963.4:c.2234C>T	XP_005250020.1:p.Pro745Leu
XM_005249964.4:c.2108C>T	XP_005250021.1:p.Pro703Leu
XM_011515883.2:c.2276C>T	XP_011514185.1:p.Pro759Leu
XM_011515884.2:c.2252C>T	XP_011514186.1:p.Pro751Leu
XM_011515885.2:c.2249C>T	XP_011514187.1:p.Pro750Leu
XM_011515886.2:c.2228C>T	XP_011514188.1:p.Pro743Leu
XM_011515887.3:c.2225C>T	XP_011514189.1:p.Pro742Leu
XM_011515888.2:c.2225C>T	XP_011514190.1:p.Pro742Leu
XM_011515889.2:c.2186C>T	XP_011514191.1:p.Pro729Leu
XM_011515890.2:c.2159C>T	XP_011514192.1:p.Pro720Leu
XM_011515891.3:c.2153C>T	XP_011514193.1:p.Pro718Leu
XM_011515892.2:c.2150C>T	XP_011514194.1:p.Pro717Leu
XM_011515893.2:c.2144C>T	XP_011514195.1:p.Pro715Leu
XM_011515894.2:c.2135C>T	XP_011514196.1:p.Pro712Leu
XM_011515895.2:c.2132C>T	XP_011514197.1:p.Pro711Leu
XM_011515896.2:c.2018C>T	XP_011514198.1:p.Pro673Leu
XM_011515897.2:c.1925C>T	XP_011514199.1:p.Pro642Leu
XM_011515898.2:c.1925C>T	XP_011514200.1:p.Pro642Leu
XM_017011817.2:c.2276C>T	XP_016867306.1:p.Pro759Leu
XM_017011818.1:c.2213C>T	XP_016867307.1:p.Pro738Leu
XM_017011819.1:c.2135C>T	XP_016867308.1:p.Pro712Leu
XM_017011820.2:c.2108C>T	XP_016867309.1:p.Pro703Leu
XM_017011821.1:c.1910C>T	XP_016867310.1:p.Pro637Leu
XM_024446680.1:c.2138C>T	XP_024302448.1:p.Pro713Leu
XR_001744581.1:n.4626C>T
XR_002956413.1:n.5282C>T
XR_002956414.1:n.5742C>T
NM_001203247.2:c.2237C>T	NP_001190176.1:p.Pro746Leu
NM_001203248.2:c.2210C>T	NP_001190177.1:p.Pro737Leu
NM_001203249.2:c.2084C>T	NP_001190178.1:p.Pro695Leu
NM_004456.5:c.2252C>T MANE Select	NP_004447.2:p.Pro751Leu
NM_152998.3:c.2120C>T	NP_694543.1:p.Pro707Leu