Canonical Allele Identifier: CA1240242933
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364805C= , CM000664.2:g.27364805C= GRCh38
NC_000002.11:g.27587672C= , CM000664.1:g.27587672C= GRCh37
NC_000002.10:g.27441176C= NCBI36
NG_009305.1:g.10653G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1285G= (EIF2B4) MANE Select ENSP00000233552.6:p.Ala429=
ENST00000347454.8:c.1285G= (EIF2B4) ENSP00000233552.5:p.Ala429=
ENST00000405940.6:c.*551G= (EIF2B4) ENSP00000384375.2:n.*551G=
ENST00000445933.6:c.1282G= (EIF2B4) ENSP00000394397.2:p.Ala428=
ENST00000451130.6:c.1345G= (EIF2B4) ENSP00000394869.2:p.Ala449=
ENST00000478311.1:n.278G= (EIF2B4)
ENST00000493344.6:c.1348G= (EIF2B4) ENSP00000429323.1:p.Ala450=
ENST00000616081.4:c.1276G= (EIF2B4) ENSP00000477710.1:p.Ala426=
ENST00000622434.4:c.*551G= (EIF2B4) ENSP00000479991.1:n.*551G=
NM_001034116.1:c.1285G= (EIF2B4) NP_001029288.1:p.Ala429=
NM_015636.3:c.1282G= (EIF2B4) NP_056451.3:p.Ala428=
NM_172195.3:c.1345G= (EIF2B4) NP_751945.2:p.Ala449=
XM_005264632.1:c.1240G= (EIF2B4) XP_005264689.1:p.Ala414=
XM_006712132.1:c.1237G= (EIF2B4) XP_006712195.1:p.Ala413=
XM_011533147.1:c.667G= (EIF2B4) XP_011531449.1:p.Ala223=
XR_939868.1:n.1772-2619C= (GTF3C2-AS2)
NM_001318965.1:c.1348G= (EIF2B4) NP_001305894.1:p.Ala450=
NM_001318966.1:c.1240G= (EIF2B4) NP_001305895.1:p.Ala414=
NM_001318967.1:c.1192G= (EIF2B4) NP_001305896.1:p.Ala398=
NM_001318968.1:c.700G= (EIF2B4) NP_001305897.1:p.Ala234=
NM_001318969.1:c.667G= (EIF2B4) NP_001305898.1:p.Ala223=
XM_011533147.2:c.667G= (EIF2B4) XP_011531449.1:p.Ala223=
NM_001034116.2:c.1285G= (EIF2B4) MANE Select NP_001029288.1:p.Ala429=
NM_001318965.2:c.1348G= (EIF2B4) NP_001305894.1:p.Ala450=
NM_001318966.2:c.1240G= (EIF2B4) NP_001305895.1:p.Ala414=
NM_001318967.2:c.1192G= (EIF2B4) NP_001305896.1:p.Ala398=
NM_001318968.2:c.700G= (EIF2B4) NP_001305897.1:p.Ala234=
NM_001318969.2:c.667G= (EIF2B4) NP_001305898.1:p.Ala223=
NM_015636.4:c.1282G= (EIF2B4) NP_056451.3:p.Ala428=
NM_172195.4:c.1345G= (EIF2B4) NP_751945.2:p.Ala449=