Canonical Allele Identifier: CA369713045

Gene: EZH2

Linked Data

• dbSNP Id: rs2129469008
• MyVariant Identifiers: chr7:g.148508733G>A (hg19) ; chr7:g.148811641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811641G>A , CM000669.2:g.148811641G>A	GRCh38
NC_000007.13:g.148508733G>A , CM000669.1:g.148508733G>A	GRCh37
NC_000007.12:g.148139666G>A	NCBI36
NG_032043.1:g.77709C>T , LRG_531:g.77709C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3831C>T
ENST00000682317.1:c.*993C>T	ENSP00000508286.1:n.*993C>T
ENST00000683292.1:c.*827C>T	ENSP00000507503.1:n.*827C>T
ENST00000683293.1:n.3650C>T
ENST00000683744.1:c.*993C>T	ENSP00000506949.1:n.*993C>T
ENST00000684300.1:c.*993C>T	ENSP00000508407.1:n.*993C>T
ENST00000684400.1:n.2822C>T
ENST00000684436.1:n.2247C>T
ENST00000684510.1:n.2309C>T
ENST00000320356.7:c.1931C>T MANE Select	ENSP00000320147.2:p.Ser644Leu
ENST00000320356.6:c.1931C>T	ENSP00000320147.2:p.Ser644Leu
ENST00000350995.6:c.1799C>T	ENSP00000223193.2:p.Ser600Leu
ENST00000460911.5:c.1916C>T	ENSP00000419711.1:p.Ser639Leu
ENST00000469631.1:n.183C>T
ENST00000476773.5:c.1763C>T	ENSP00000419050.1:p.Ser588Leu
ENST00000478654.5:c.1763C>T	ENSP00000417062.1:p.Ser588Leu
ENST00000483967.5:c.1889C>T	ENSP00000419856.1:p.Ser630Leu
ENST00000492143.5:c.*1921C>T	ENSP00000417377.1:n.*1921C>T
NM_001203247.1:c.1916C>T	NP_001190176.1:p.Ser639Leu
NM_001203248.1:c.1889C>T	NP_001190177.1:p.Ser630Leu
NM_001203249.1:c.1763C>T	NP_001190178.1:p.Ser588Leu
NM_004456.4:c.1931C>T , LRG_531t1:c.1931C>T	NP_004447.2:p.Ser644Leu
NM_152998.2:c.1799C>T	NP_694543.1:p.Ser600Leu
XM_005249962.3:c.1940C>T	XP_005250019.1:p.Ser647Leu
XM_005249963.3:c.1913C>T	XP_005250020.1:p.Ser638Leu
XM_005249964.3:c.1787C>T	XP_005250021.1:p.Ser596Leu
XM_011515883.1:c.1955C>T	XP_011514185.1:p.Ser652Leu
XM_011515884.1:c.1931C>T	XP_011514186.1:p.Ser644Leu
XM_011515885.1:c.1928C>T	XP_011514187.1:p.Ser643Leu
XM_011515886.1:c.1907C>T	XP_011514188.1:p.Ser636Leu
XM_011515887.1:c.1904C>T	XP_011514189.1:p.Ser635Leu
XM_011515888.1:c.1904C>T	XP_011514190.1:p.Ser635Leu
XM_011515889.1:c.1865C>T	XP_011514191.1:p.Ser622Leu
XM_011515890.1:c.1838C>T	XP_011514192.1:p.Ser613Leu
XM_011515891.1:c.1832C>T	XP_011514193.1:p.Ser611Leu
XM_011515892.1:c.1829C>T	XP_011514194.1:p.Ser610Leu
XM_011515893.1:c.1823C>T	XP_011514195.1:p.Ser608Leu
XM_011515894.1:c.1814C>T	XP_011514196.1:p.Ser605Leu
XM_011515895.1:c.1811C>T	XP_011514197.1:p.Ser604Leu
XM_011515896.1:c.1697C>T	XP_011514198.1:p.Ser566Leu
XM_011515897.1:c.1604C>T	XP_011514199.1:p.Ser535Leu
XM_011515898.1:c.1604C>T	XP_011514200.1:p.Ser535Leu
XR_928101.1:n.515+6556G>A
XR_928102.1:n.722+6556G>A
XM_005249962.4:c.1940C>T	XP_005250019.1:p.Ser647Leu
XM_005249963.4:c.1913C>T	XP_005250020.1:p.Ser638Leu
XM_005249964.4:c.1787C>T	XP_005250021.1:p.Ser596Leu
XM_011515883.2:c.1955C>T	XP_011514185.1:p.Ser652Leu
XM_011515884.2:c.1931C>T	XP_011514186.1:p.Ser644Leu
XM_011515885.2:c.1928C>T	XP_011514187.1:p.Ser643Leu
XM_011515886.2:c.1907C>T	XP_011514188.1:p.Ser636Leu
XM_011515887.3:c.1904C>T	XP_011514189.1:p.Ser635Leu
XM_011515888.2:c.1904C>T	XP_011514190.1:p.Ser635Leu
XM_011515889.2:c.1865C>T	XP_011514191.1:p.Ser622Leu
XM_011515890.2:c.1838C>T	XP_011514192.1:p.Ser613Leu
XM_011515891.3:c.1832C>T	XP_011514193.1:p.Ser611Leu
XM_011515892.2:c.1829C>T	XP_011514194.1:p.Ser610Leu
XM_011515893.2:c.1823C>T	XP_011514195.1:p.Ser608Leu
XM_011515894.2:c.1814C>T	XP_011514196.1:p.Ser605Leu
XM_011515895.2:c.1811C>T	XP_011514197.1:p.Ser604Leu
XM_011515896.2:c.1697C>T	XP_011514198.1:p.Ser566Leu
XM_011515897.2:c.1604C>T	XP_011514199.1:p.Ser535Leu
XM_011515898.2:c.1604C>T	XP_011514200.1:p.Ser535Leu
XM_017011817.2:c.1955C>T	XP_016867306.1:p.Ser652Leu
XM_017011818.1:c.1892C>T	XP_016867307.1:p.Ser631Leu
XM_017011819.1:c.1814C>T	XP_016867308.1:p.Ser605Leu
XM_017011820.2:c.1787C>T	XP_016867309.1:p.Ser596Leu
XM_017011821.1:c.1589C>T	XP_016867310.1:p.Ser530Leu
XM_024446680.1:c.1817C>T	XP_024302448.1:p.Ser606Leu
XR_001744581.1:n.4305C>T
XR_002956413.1:n.4961C>T
XR_002956414.1:n.5421C>T
NM_001203247.2:c.1916C>T	NP_001190176.1:p.Ser639Leu
NM_001203248.2:c.1889C>T	NP_001190177.1:p.Ser630Leu
NM_001203249.2:c.1763C>T	NP_001190178.1:p.Ser588Leu
NM_004456.5:c.1931C>T MANE Select	NP_004447.2:p.Ser644Leu
NM_152998.3:c.1799C>T	NP_694543.1:p.Ser600Leu