Canonical Allele Identifier: CA4547763

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811664A>G , CM000669.2:g.148811664A>G	GRCh38
NC_000007.13:g.148508756A>G , CM000669.1:g.148508756A>G	GRCh37
NC_000007.12:g.148139689A>G	NCBI36
NG_032043.1:g.77686T>C , LRG_531:g.77686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3808T>C
ENST00000682317.1:c.*970T>C	ENSP00000508286.1:n.*970T>C
ENST00000683292.1:c.*804T>C	ENSP00000507503.1:n.*804T>C
ENST00000683293.1:n.3627T>C
ENST00000683744.1:c.*970T>C	ENSP00000506949.1:n.*970T>C
ENST00000684300.1:c.*970T>C	ENSP00000508407.1:n.*970T>C
ENST00000684400.1:n.2799T>C
ENST00000684436.1:n.2224T>C
ENST00000684510.1:n.2286T>C
ENST00000320356.7:c.1908T>C MANE Select	ENSP00000320147.2:p.Pro636=
ENST00000320356.6:c.1908T>C	ENSP00000320147.2:p.Pro636=
ENST00000350995.6:c.1776T>C	ENSP00000223193.2:p.Pro592=
ENST00000460911.5:c.1893T>C	ENSP00000419711.1:p.Pro631=
ENST00000469631.1:n.160T>C
ENST00000476773.5:c.1740T>C	ENSP00000419050.1:p.Pro580=
ENST00000478654.5:c.1740T>C	ENSP00000417062.1:p.Pro580=
ENST00000483967.5:c.1866T>C	ENSP00000419856.1:p.Pro622=
ENST00000492143.5:c.*1898T>C	ENSP00000417377.1:n.*1898T>C
NM_001203247.1:c.1893T>C	NP_001190176.1:p.Pro631=
NM_001203248.1:c.1866T>C	NP_001190177.1:p.Pro622=
NM_001203249.1:c.1740T>C	NP_001190178.1:p.Pro580=
NM_004456.4:c.1908T>C , LRG_531t1:c.1908T>C	NP_004447.2:p.Pro636=
NM_152998.2:c.1776T>C	NP_694543.1:p.Pro592=
XM_005249962.3:c.1917T>C	XP_005250019.1:p.Pro639=
XM_005249963.3:c.1890T>C	XP_005250020.1:p.Pro630=
XM_005249964.3:c.1764T>C	XP_005250021.1:p.Pro588=
XM_011515883.1:c.1932T>C	XP_011514185.1:p.Pro644=
XM_011515884.1:c.1908T>C	XP_011514186.1:p.Pro636=
XM_011515885.1:c.1905T>C	XP_011514187.1:p.Pro635=
XM_011515886.1:c.1884T>C	XP_011514188.1:p.Pro628=
XM_011515887.1:c.1881T>C	XP_011514189.1:p.Pro627=
XM_011515888.1:c.1881T>C	XP_011514190.1:p.Pro627=
XM_011515889.1:c.1842T>C	XP_011514191.1:p.Pro614=
XM_011515890.1:c.1815T>C	XP_011514192.1:p.Pro605=
XM_011515891.1:c.1809T>C	XP_011514193.1:p.Pro603=
XM_011515892.1:c.1806T>C	XP_011514194.1:p.Pro602=
XM_011515893.1:c.1800T>C	XP_011514195.1:p.Pro600=
XM_011515894.1:c.1791T>C	XP_011514196.1:p.Pro597=
XM_011515895.1:c.1788T>C	XP_011514197.1:p.Pro596=
XM_011515896.1:c.1674T>C	XP_011514198.1:p.Pro558=
XM_011515897.1:c.1581T>C	XP_011514199.1:p.Pro527=
XM_011515898.1:c.1581T>C	XP_011514200.1:p.Pro527=
XR_928101.1:n.515+6579A>G
XR_928102.1:n.722+6579A>G
XM_005249962.4:c.1917T>C	XP_005250019.1:p.Pro639=
XM_005249963.4:c.1890T>C	XP_005250020.1:p.Pro630=
XM_005249964.4:c.1764T>C	XP_005250021.1:p.Pro588=
XM_011515883.2:c.1932T>C	XP_011514185.1:p.Pro644=
XM_011515884.2:c.1908T>C	XP_011514186.1:p.Pro636=
XM_011515885.2:c.1905T>C	XP_011514187.1:p.Pro635=
XM_011515886.2:c.1884T>C	XP_011514188.1:p.Pro628=
XM_011515887.3:c.1881T>C	XP_011514189.1:p.Pro627=
XM_011515888.2:c.1881T>C	XP_011514190.1:p.Pro627=
XM_011515889.2:c.1842T>C	XP_011514191.1:p.Pro614=
XM_011515890.2:c.1815T>C	XP_011514192.1:p.Pro605=
XM_011515891.3:c.1809T>C	XP_011514193.1:p.Pro603=
XM_011515892.2:c.1806T>C	XP_011514194.1:p.Pro602=
XM_011515893.2:c.1800T>C	XP_011514195.1:p.Pro600=
XM_011515894.2:c.1791T>C	XP_011514196.1:p.Pro597=
XM_011515895.2:c.1788T>C	XP_011514197.1:p.Pro596=
XM_011515896.2:c.1674T>C	XP_011514198.1:p.Pro558=
XM_011515897.2:c.1581T>C	XP_011514199.1:p.Pro527=
XM_011515898.2:c.1581T>C	XP_011514200.1:p.Pro527=
XM_017011817.2:c.1932T>C	XP_016867306.1:p.Pro644=
XM_017011818.1:c.1869T>C	XP_016867307.1:p.Pro623=
XM_017011819.1:c.1791T>C	XP_016867308.1:p.Pro597=
XM_017011820.2:c.1764T>C	XP_016867309.1:p.Pro588=
XM_017011821.1:c.1566T>C	XP_016867310.1:p.Pro522=
XM_024446680.1:c.1794T>C	XP_024302448.1:p.Pro598=
XR_001744581.1:n.4282T>C
XR_002956413.1:n.4938T>C
XR_002956414.1:n.5398T>C
NM_001203247.2:c.1893T>C	NP_001190176.1:p.Pro631=
NM_001203248.2:c.1866T>C	NP_001190177.1:p.Pro622=
NM_001203249.2:c.1740T>C	NP_001190178.1:p.Pro580=
NM_004456.5:c.1908T>C MANE Select	NP_004447.2:p.Pro636=
NM_152998.3:c.1776T>C	NP_694543.1:p.Pro592=