Canonical Allele Identifier: CA1576644
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27366778G>A , CM000664.2:g.27366778G>A GRCh38
NC_000002.11:g.27589645G>A , CM000664.1:g.27589645G>A GRCh37
NC_000002.10:g.27443149G>A NCBI36
NG_009305.1:g.8680C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1172C>T (EIF2B4) MANE Select ENSP00000233552.6:p.Ala391Val
ENST00000347454.8:c.1172C>T (EIF2B4) ENSP00000233552.5:p.Ala391Val
ENST00000405940.6:c.*438C>T (EIF2B4) ENSP00000384375.2:n.*438C>T
ENST00000417567.1:c.746C>T (EIF2B4)
ENST00000445933.6:c.1169C>T (EIF2B4) ENSP00000394397.2:p.Ala390Val
ENST00000451130.6:c.1232C>T (EIF2B4) ENSP00000394869.2:p.Ala411Val
ENST00000475582.5:n.3073C>T (EIF2B4)
ENST00000493344.6:c.1235C>T (EIF2B4) ENSP00000429323.1:p.Ala412Val
ENST00000616081.4:c.1163C>T (EIF2B4) ENSP00000477710.1:p.Ala388Val
ENST00000622434.4:c.*438C>T (EIF2B4) ENSP00000479991.1:n.*438C>T
NM_001034116.1:c.1172C>T (EIF2B4) NP_001029288.1:p.Ala391Val
NM_015636.3:c.1169C>T (EIF2B4) NP_056451.3:p.Ala390Val
NM_172195.3:c.1232C>T (EIF2B4) NP_751945.2:p.Ala411Val
XM_005264632.1:c.1127C>T (EIF2B4) XP_005264689.1:p.Ala376Val
XM_006712132.1:c.1124C>T (EIF2B4) XP_006712195.1:p.Ala375Val
XM_011533147.1:c.554C>T (EIF2B4) XP_011531449.1:p.Ala185Val
XR_939868.1:n.1772-646G>A (GTF3C2-AS2)
NM_001318965.1:c.1235C>T (EIF2B4) NP_001305894.1:p.Ala412Val
NM_001318966.1:c.1127C>T (EIF2B4) NP_001305895.1:p.Ala376Val
NM_001318967.1:c.1079C>T (EIF2B4) NP_001305896.1:p.Ala360Val
NM_001318968.1:c.587C>T (EIF2B4) NP_001305897.1:p.Ala196Val
NM_001318969.1:c.554C>T (EIF2B4) NP_001305898.1:p.Ala185Val
XM_011533147.2:c.554C>T (EIF2B4) XP_011531449.1:p.Ala185Val
NM_001034116.2:c.1172C>T (EIF2B4) MANE Select NP_001029288.1:p.Ala391Val
NM_001318965.2:c.1235C>T (EIF2B4) NP_001305894.1:p.Ala412Val
NM_001318966.2:c.1127C>T (EIF2B4) NP_001305895.1:p.Ala376Val
NM_001318967.2:c.1079C>T (EIF2B4) NP_001305896.1:p.Ala360Val
NM_001318968.2:c.587C>T (EIF2B4) NP_001305897.1:p.Ala196Val
NM_001318969.2:c.554C>T (EIF2B4) NP_001305898.1:p.Ala185Val
NM_015636.4:c.1169C>T (EIF2B4) NP_056451.3:p.Ala390Val
NM_172195.4:c.1232C>T (EIF2B4) NP_751945.2:p.Ala411Val