Canonical Allele Identifier: CA369716913
Community Standard Title: NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148818063G>C , CM000669.2:g.148818063G>C GRCh38
NC_000007.13:g.148515155G>C , CM000669.1:g.148515155G>C GRCh37
NC_000007.12:g.148146088G>C NCBI36
NG_032043.1:g.71287C>G , LRG_531:g.71287C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004456.5:c.1054C>G MANE Select NP_004447.2:p.Pro352Ala
ENST00000320356.7:c.1054C>G MANE Select ENSP00000320147.2:p.Pro352Ala
NM_001203247.1:c.1039C>G NP_001190176.1:p.Pro347Ala
NM_001203247.2:c.1039C>G NP_001190176.1:p.Pro347Ala
NM_001203248.1:c.1012C>G NP_001190177.1:p.Pro338Ala
NM_001203248.2:c.1012C>G NP_001190177.1:p.Pro338Ala
NM_001203249.1:c.1012C>G NP_001190178.1:p.Pro338Ala
NM_001203249.2:c.1012C>G NP_001190178.1:p.Pro338Ala
NM_004456.4:c.1054C>G , LRG_531t1:c.1054C>G NP_004447.2:p.Pro352Ala
NM_152998.2:c.922C>G NP_694543.1:p.Pro308Ala
NM_152998.3:c.922C>G NP_694543.1:p.Pro308Ala
ENST00000320356.6:c.1054C>G ENSP00000320147.2:p.Pro352Ala
ENST00000350995.6:c.922C>G ENSP00000223193.2:p.Pro308Ala
ENST00000460911.5:c.1039C>G ENSP00000419711.1:p.Pro347Ala
ENST00000476773.5:c.1012C>G ENSP00000419050.1:p.Pro338Ala
ENST00000478654.5:c.1012C>G ENSP00000417062.1:p.Pro338Ala
ENST00000483012.1:c.*865C>G ENSP00000417704.1:n.*865C>G
ENST00000483967.5:c.1012C>G ENSP00000419856.1:p.Pro338Ala
ENST00000492143.5:c.*116C>G ENSP00000417377.1:n.*116C>G
ENST00000498186.5:n.1170C>G
ENST00000682263.1:n.1269C>G
ENST00000682317.1:c.*116C>G ENSP00000508286.1:n.*116C>G
ENST00000683292.1:c.712C>G ENSP00000507503.1:p.Pro238Ala
ENST00000683744.1:c.*116C>G ENSP00000506949.1:n.*116C>G
ENST00000684300.1:c.*116C>G ENSP00000508407.1:n.*116C>G
ENST00000684436.1:n.442C>G
ENST00000684510.1:n.1411C>G
XM_005249962.3:c.1063C>G XP_005250019.1:p.Pro355Ala
XM_005249962.4:c.1063C>G XP_005250019.1:p.Pro355Ala
XM_005249963.3:c.1036C>G XP_005250020.1:p.Pro346Ala
XM_005249963.4:c.1036C>G XP_005250020.1:p.Pro346Ala
XM_005249964.3:c.1036C>G XP_005250021.1:p.Pro346Ala
XM_005249964.4:c.1036C>G XP_005250021.1:p.Pro346Ala
XM_011515883.1:c.1078C>G XP_011514185.1:p.Pro360Ala
XM_011515883.2:c.1078C>G XP_011514185.1:p.Pro360Ala
XM_011515884.1:c.1054C>G XP_011514186.1:p.Pro352Ala
XM_011515884.2:c.1054C>G XP_011514186.1:p.Pro352Ala
XM_011515885.1:c.1051C>G XP_011514187.1:p.Pro351Ala
XM_011515885.2:c.1051C>G XP_011514187.1:p.Pro351Ala
XM_011515886.1:c.1030C>G XP_011514188.1:p.Pro344Ala
XM_011515886.2:c.1030C>G XP_011514188.1:p.Pro344Ala
XM_011515887.1:c.1027C>G XP_011514189.1:p.Pro343Ala
XM_011515887.3:c.1027C>G XP_011514189.1:p.Pro343Ala
XM_011515888.1:c.1027C>G XP_011514190.1:p.Pro343Ala
XM_011515888.2:c.1027C>G XP_011514190.1:p.Pro343Ala
XM_011515889.1:c.988C>G XP_011514191.1:p.Pro330Ala
XM_011515889.2:c.988C>G XP_011514191.1:p.Pro330Ala
XM_011515890.1:c.961C>G XP_011514192.1:p.Pro321Ala
XM_011515890.2:c.961C>G XP_011514192.1:p.Pro321Ala
XM_011515891.1:c.955C>G XP_011514193.1:p.Pro319Ala
XM_011515891.3:c.955C>G XP_011514193.1:p.Pro319Ala
XM_011515892.1:c.1078C>G XP_011514194.1:p.Pro360Ala
XM_011515892.2:c.1078C>G XP_011514194.1:p.Pro360Ala
XM_011515893.1:c.946C>G XP_011514195.1:p.Pro316Ala
XM_011515893.2:c.946C>G XP_011514195.1:p.Pro316Ala
XM_011515894.1:c.937C>G XP_011514196.1:p.Pro313Ala
XM_011515894.2:c.937C>G XP_011514196.1:p.Pro313Ala
XM_011515895.1:c.934C>G XP_011514197.1:p.Pro312Ala
XM_011515895.2:c.934C>G XP_011514197.1:p.Pro312Ala
XM_011515896.1:c.946C>G XP_011514198.1:p.Pro316Ala
XM_011515896.2:c.946C>G XP_011514198.1:p.Pro316Ala
XM_011515897.1:c.727C>G XP_011514199.1:p.Pro243Ala
XM_011515897.2:c.727C>G XP_011514199.1:p.Pro243Ala
XM_011515898.1:c.727C>G XP_011514200.1:p.Pro243Ala
XM_011515898.2:c.727C>G XP_011514200.1:p.Pro243Ala
XM_011515899.1:c.1078C>G XP_011514201.1:p.Pro360Ala
XM_011515899.3:c.1078C>G XP_011514201.1:p.Pro360Ala
XM_011515900.1:c.1078C>G XP_011514202.1:p.Pro360Ala
XM_011515901.1:c.1078C>G XP_011514203.1:p.Pro360Ala
XM_011515901.3:c.1078C>G XP_011514203.1:p.Pro360Ala
XM_011515902.1:c.1078C>G XP_011514204.1:p.Pro360Ala
XM_017011817.2:c.1078C>G XP_016867306.1:p.Pro360Ala
XM_017011818.1:c.1015C>G XP_016867307.1:p.Pro339Ala
XM_017011819.1:c.1063C>G XP_016867308.1:p.Pro355Ala
XM_017011820.2:c.910C>G XP_016867309.1:p.Pro304Ala
XM_017011821.1:c.712C>G XP_016867310.1:p.Pro238Ala
XM_024446680.1:c.940C>G XP_024302448.1:p.Pro314Ala
XR_001744581.1:n.3693C>G
XR_002956413.1:n.3676C>G
XR_002956414.1:n.3693C>G
XR_928101.1:n.516-5888G>C
XR_928102.1:n.723-5888G>C