Canonical Allele Identifier: CA369711729

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807647-C-A
• MyVariant Identifiers: chr7:g.148504739C>A (hg19) ; chr7:g.148807647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807647C>A , CM000669.2:g.148807647C>A	GRCh38
NC_000007.13:g.148504739C>A , CM000669.1:g.148504739C>A	GRCh37
NC_000007.12:g.148135672C>A	NCBI36
NG_032043.1:g.81703G>T , LRG_531:g.81703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4155G>T
ENST00000682317.1:c.*1317G>T	ENSP00000508286.1:n.*1317G>T
ENST00000683292.1:c.*1151G>T	ENSP00000507503.1:n.*1151G>T
ENST00000683293.1:n.3974G>T
ENST00000683744.1:c.*1317G>T	ENSP00000506949.1:n.*1317G>T
ENST00000684300.1:c.*1317G>T	ENSP00000508407.1:n.*1317G>T
ENST00000684400.1:n.4242G>T
ENST00000684436.1:n.2571G>T
ENST00000684510.1:n.2633G>T
ENST00000320356.7:c.2255G>T MANE Select	ENSP00000320147.2:p.Ter752Leu
ENST00000320356.6:c.2255G>T	ENSP00000320147.2:p.Ter752Leu
ENST00000350995.6:c.2123G>T	ENSP00000223193.2:p.Ter708Leu
ENST00000460911.5:c.2240G>T	ENSP00000419711.1:p.Ter747Leu
ENST00000476773.5:c.2087G>T	ENSP00000419050.1:p.Ter696Leu
ENST00000478654.5:c.2087G>T	ENSP00000417062.1:p.Ter696Leu
ENST00000483967.5:c.2213G>T	ENSP00000419856.1:p.Ter738Leu
ENST00000492143.5:c.*2245G>T	ENSP00000417377.1:n.*2245G>T
NM_001203247.1:c.2240G>T	NP_001190176.1:p.Ter747Leu
NM_001203248.1:c.2213G>T	NP_001190177.1:p.Ter738Leu
NM_001203249.1:c.2087G>T	NP_001190178.1:p.Ter696Leu
NM_004456.4:c.2255G>T , LRG_531t1:c.2255G>T	NP_004447.2:p.Ter752Leu
NM_152998.2:c.2123G>T	NP_694543.1:p.Ter708Leu
XM_005249962.3:c.2264G>T	XP_005250019.1:p.Ter755Leu
XM_005249963.3:c.2237G>T	XP_005250020.1:p.Ter746Leu
XM_005249964.3:c.2111G>T	XP_005250021.1:p.Ter704Leu
XM_011515883.1:c.2279G>T	XP_011514185.1:p.Ter760Leu
XM_011515884.1:c.2255G>T	XP_011514186.1:p.Ter752Leu
XM_011515885.1:c.2252G>T	XP_011514187.1:p.Ter751Leu
XM_011515886.1:c.2231G>T	XP_011514188.1:p.Ter744Leu
XM_011515887.1:c.2228G>T	XP_011514189.1:p.Ter743Leu
XM_011515888.1:c.2228G>T	XP_011514190.1:p.Ter743Leu
XM_011515889.1:c.2189G>T	XP_011514191.1:p.Ter730Leu
XM_011515890.1:c.2162G>T	XP_011514192.1:p.Ter721Leu
XM_011515891.1:c.2156G>T	XP_011514193.1:p.Ter719Leu
XM_011515892.1:c.2153G>T	XP_011514194.1:p.Ter718Leu
XM_011515893.1:c.2147G>T	XP_011514195.1:p.Ter716Leu
XM_011515894.1:c.2138G>T	XP_011514196.1:p.Ter713Leu
XM_011515895.1:c.2135G>T	XP_011514197.1:p.Ter712Leu
XM_011515896.1:c.2021G>T	XP_011514198.1:p.Ter674Leu
XM_011515897.1:c.1928G>T	XP_011514199.1:p.Ter643Leu
XM_011515898.1:c.1928G>T	XP_011514200.1:p.Ter643Leu
XR_928101.1:n.515+2562C>A
XR_928102.1:n.722+2562C>A
XM_005249962.4:c.2264G>T	XP_005250019.1:p.Ter755Leu
XM_005249963.4:c.2237G>T	XP_005250020.1:p.Ter746Leu
XM_005249964.4:c.2111G>T	XP_005250021.1:p.Ter704Leu
XM_011515883.2:c.2279G>T	XP_011514185.1:p.Ter760Leu
XM_011515884.2:c.2255G>T	XP_011514186.1:p.Ter752Leu
XM_011515885.2:c.2252G>T	XP_011514187.1:p.Ter751Leu
XM_011515886.2:c.2231G>T	XP_011514188.1:p.Ter744Leu
XM_011515887.3:c.2228G>T	XP_011514189.1:p.Ter743Leu
XM_011515888.2:c.2228G>T	XP_011514190.1:p.Ter743Leu
XM_011515889.2:c.2189G>T	XP_011514191.1:p.Ter730Leu
XM_011515890.2:c.2162G>T	XP_011514192.1:p.Ter721Leu
XM_011515891.3:c.2156G>T	XP_011514193.1:p.Ter719Leu
XM_011515892.2:c.2153G>T	XP_011514194.1:p.Ter718Leu
XM_011515893.2:c.2147G>T	XP_011514195.1:p.Ter716Leu
XM_011515894.2:c.2138G>T	XP_011514196.1:p.Ter713Leu
XM_011515895.2:c.2135G>T	XP_011514197.1:p.Ter712Leu
XM_011515896.2:c.2021G>T	XP_011514198.1:p.Ter674Leu
XM_011515897.2:c.1928G>T	XP_011514199.1:p.Ter643Leu
XM_011515898.2:c.1928G>T	XP_011514200.1:p.Ter643Leu
XM_017011817.2:c.2279G>T	XP_016867306.1:p.Ter760Leu
XM_017011818.1:c.2216G>T	XP_016867307.1:p.Ter739Leu
XM_017011819.1:c.2138G>T	XP_016867308.1:p.Ter713Leu
XM_017011820.2:c.2111G>T	XP_016867309.1:p.Ter704Leu
XM_017011821.1:c.1913G>T	XP_016867310.1:p.Ter638Leu
XM_024446680.1:c.2141G>T	XP_024302448.1:p.Ter714Leu
XR_001744581.1:n.4629G>T
XR_002956413.1:n.5285G>T
XR_002956414.1:n.5745G>T
NM_001203247.2:c.2240G>T	NP_001190176.1:p.Ter747Leu
NM_001203248.2:c.2213G>T	NP_001190177.1:p.Ter738Leu
NM_001203249.2:c.2087G>T	NP_001190178.1:p.Ter696Leu
NM_004456.5:c.2255G>T MANE Select	NP_004447.2:p.Ter752Leu
NM_152998.3:c.2123G>T	NP_694543.1:p.Ter708Leu