Canonical Allele Identifier: CA2576977110
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364902T>C , CM000664.2:g.27364902T>C GRCh38
NC_000002.11:g.27587769T>C , CM000664.1:g.27587769T>C GRCh37
NC_000002.10:g.27441273T>C NCBI36
NG_009305.1:g.10556A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1192-4A>G (EIF2B4) MANE Select ENSP00000233552.6:n.1192-4A>G
ENST00000347454.8:c.1192-4A>G (EIF2B4) ENSP00000233552.5:n.1192-4A>G
ENST00000405940.6:c.*458-4A>G (EIF2B4) ENSP00000384375.2:n.*458-4A>G
ENST00000445933.6:c.1189-4A>G (EIF2B4) ENSP00000394397.2:n.1189-4A>G
ENST00000451130.6:c.1252-4A>G (EIF2B4) ENSP00000394869.2:n.1252-4A>G
ENST00000478311.1:n.181A>G (EIF2B4)
ENST00000493344.6:c.1255-4A>G (EIF2B4) ENSP00000429323.1:n.1255-4A>G
ENST00000616081.4:c.1183-4A>G (EIF2B4) ENSP00000477710.1:n.1183-4A>G
ENST00000622434.4:c.*458-4A>G (EIF2B4) ENSP00000479991.1:n.*458-4A>G
NM_001034116.1:c.1192-4A>G (EIF2B4) NP_001029288.1:n.1192-4A>G
NM_015636.3:c.1189-4A>G (EIF2B4) NP_056451.3:n.1189-4A>G
NM_172195.3:c.1252-4A>G (EIF2B4) NP_751945.2:n.1252-4A>G
XM_005264632.1:c.1147-4A>G (EIF2B4) XP_005264689.1:n.1147-4A>G
XM_006712132.1:c.1144-4A>G (EIF2B4) XP_006712195.1:n.1144-4A>G
XM_011533147.1:c.574-4A>G (EIF2B4) XP_011531449.1:n.574-4A>G
XR_939868.1:n.1772-2522T>C (GTF3C2-AS2)
NM_001318965.1:c.1255-4A>G (EIF2B4) NP_001305894.1:n.1255-4A>G
NM_001318966.1:c.1147-4A>G (EIF2B4) NP_001305895.1:n.1147-4A>G
NM_001318967.1:c.1099-4A>G (EIF2B4) NP_001305896.1:n.1099-4A>G
NM_001318968.1:c.607-4A>G (EIF2B4) NP_001305897.1:n.607-4A>G
NM_001318969.1:c.574-4A>G (EIF2B4) NP_001305898.1:n.574-4A>G
XM_011533147.2:c.574-4A>G (EIF2B4) XP_011531449.1:n.574-4A>G
NM_001034116.2:c.1192-4A>G (EIF2B4) MANE Select NP_001029288.1:n.1192-4A>G
NM_001318965.2:c.1255-4A>G (EIF2B4) NP_001305894.1:n.1255-4A>G
NM_001318966.2:c.1147-4A>G (EIF2B4) NP_001305895.1:n.1147-4A>G
NM_001318967.2:c.1099-4A>G (EIF2B4) NP_001305896.1:n.1099-4A>G
NM_001318968.2:c.607-4A>G (EIF2B4) NP_001305897.1:n.607-4A>G
NM_001318969.2:c.574-4A>G (EIF2B4) NP_001305898.1:n.574-4A>G
NM_015636.4:c.1189-4A>G (EIF2B4) NP_056451.3:n.1189-4A>G
NM_172195.4:c.1252-4A>G (EIF2B4) NP_751945.2:n.1252-4A>G