Canonical Allele Identifier: CA1240245242
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27367368_27367369delinsAG , CM000664.2:g.27367368_27367369delinsAG GRCh38
NC_000002.11:g.27590235_27590236delinsAG , CM000664.1:g.27590235_27590236delinsAG GRCh37
NC_000002.10:g.27443739_27443740delinsAG NCBI36
NG_009305.1:g.8089_8090delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.885+88_885+89delinsCT (EIF2B4) MANE Select ENSP00000233552.6:n.885+88_885+89delinsCT
ENST00000347454.8:c.885+88_885+89delinsCT (EIF2B4) ENSP00000233552.5:n.885+88_885+89delinsCT
ENST00000405940.6:c.*151+88_*151+89delinsCT (EIF2B4) ENSP00000384375.2:n.*151+88_*151+89delinsCT
ENST00000417567.1:c.462-74_462-73delinsCT (EIF2B4)
ENST00000445933.6:c.882+88_882+89delinsCT (EIF2B4) ENSP00000394397.2:n.882+88_882+89delinsCT
ENST00000451130.6:c.945+88_945+89delinsCT (EIF2B4) ENSP00000394869.2:n.945+88_945+89delinsCT
ENST00000475582.5:n.2482_2483delinsCT (EIF2B4)
ENST00000493344.6:c.948+88_948+89delinsCT (EIF2B4) ENSP00000429323.1:n.948+88_948+89delinsCT
ENST00000616081.4:c.876+88_876+89delinsCT (EIF2B4) ENSP00000477710.1:n.876+88_876+89delinsCT
ENST00000622434.4:c.*151+88_*151+89delinsCT (EIF2B4) ENSP00000479991.1:n.*151+88_*151+89delinsCT
NM_001034116.1:c.885+88_885+89delinsCT (EIF2B4) NP_001029288.1:n.885+88_885+89delinsCT
NM_015636.3:c.882+88_882+89delinsCT (EIF2B4) NP_056451.3:n.882+88_882+89delinsCT
NM_172195.3:c.945+88_945+89delinsCT (EIF2B4) NP_751945.2:n.945+88_945+89delinsCT
XM_005264632.1:c.840+88_840+89delinsCT (EIF2B4) XP_005264689.1:n.840+88_840+89delinsCT
XM_006712132.1:c.837+88_837+89delinsCT (EIF2B4) XP_006712195.1:n.837+88_837+89delinsCT
XM_011533147.1:c.267+88_267+89delinsCT (EIF2B4) XP_011531449.1:n.267+88_267+89delinsCT
XR_939868.1:n.1772-56_1772-55delinsAG (GTF3C2-AS2)
NM_001318965.1:c.948+88_948+89delinsCT (EIF2B4) NP_001305894.1:n.948+88_948+89delinsCT
NM_001318966.1:c.840+88_840+89delinsCT (EIF2B4) NP_001305895.1:n.840+88_840+89delinsCT
NM_001318967.1:c.792+88_792+89delinsCT (EIF2B4) NP_001305896.1:n.792+88_792+89delinsCT
NM_001318968.1:c.300+88_300+89delinsCT (EIF2B4) NP_001305897.1:n.300+88_300+89delinsCT
NM_001318969.1:c.267+88_267+89delinsCT (EIF2B4) NP_001305898.1:n.267+88_267+89delinsCT
XM_011533147.2:c.267+88_267+89delinsCT (EIF2B4) XP_011531449.1:n.267+88_267+89delinsCT
NM_001034116.2:c.885+88_885+89delinsCT (EIF2B4) MANE Select NP_001029288.1:n.885+88_885+89delinsCT
NM_001318965.2:c.948+88_948+89delinsCT (EIF2B4) NP_001305894.1:n.948+88_948+89delinsCT
NM_001318966.2:c.840+88_840+89delinsCT (EIF2B4) NP_001305895.1:n.840+88_840+89delinsCT
NM_001318967.2:c.792+88_792+89delinsCT (EIF2B4) NP_001305896.1:n.792+88_792+89delinsCT
NM_001318968.2:c.300+88_300+89delinsCT (EIF2B4) NP_001305897.1:n.300+88_300+89delinsCT
NM_001318969.2:c.267+88_267+89delinsCT (EIF2B4) NP_001305898.1:n.267+88_267+89delinsCT
NM_015636.4:c.882+88_882+89delinsCT (EIF2B4) NP_056451.3:n.882+88_882+89delinsCT
NM_172195.4:c.945+88_945+89delinsCT (EIF2B4) NP_751945.2:n.945+88_945+89delinsCT