Revel Score:
ENST00000347454 (MANE Select)
0.570
ENST00000414437
0.570
ENST00000445933
0.570
ENST00000451130
0.570
ENST00000493344
0.570
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27366778G>C , CM000664.2:g.27366778G>C | GRCh38 |
| NC_000002.11:g.27589645G>C , CM000664.1:g.27589645G>C | GRCh37 |
| NC_000002.10:g.27443149G>C | NCBI36 |
| NG_009305.1:g.8680C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1172C>G (EIF2B4) MANE Select | ENSP00000233552.6:p.Ala391Gly | |
| ENST00000347454.8:c.1172C>G (EIF2B4) | ENSP00000233552.5:p.Ala391Gly | |
| ENST00000405940.6:c.*438C>G (EIF2B4) | ENSP00000384375.2:n.*438C>G | |
| ENST00000417567.1:c.746C>G (EIF2B4) | ||
| ENST00000445933.6:c.1169C>G (EIF2B4) | ENSP00000394397.2:p.Ala390Gly | |
| ENST00000451130.6:c.1232C>G (EIF2B4) | ENSP00000394869.2:p.Ala411Gly | |
| ENST00000475582.5:n.3073C>G (EIF2B4) | ||
| ENST00000493344.6:c.1235C>G (EIF2B4) | ENSP00000429323.1:p.Ala412Gly | |
| ENST00000616081.4:c.1163C>G (EIF2B4) | ENSP00000477710.1:p.Ala388Gly | |
| ENST00000622434.4:c.*438C>G (EIF2B4) | ENSP00000479991.1:n.*438C>G | |
| NM_001034116.1:c.1172C>G (EIF2B4) | NP_001029288.1:p.Ala391Gly | |
| NM_015636.3:c.1169C>G (EIF2B4) | NP_056451.3:p.Ala390Gly | |
| NM_172195.3:c.1232C>G (EIF2B4) | NP_751945.2:p.Ala411Gly | |
| XM_005264632.1:c.1127C>G (EIF2B4) | XP_005264689.1:p.Ala376Gly | |
| XM_006712132.1:c.1124C>G (EIF2B4) | XP_006712195.1:p.Ala375Gly | |
| XM_011533147.1:c.554C>G (EIF2B4) | XP_011531449.1:p.Ala185Gly | |
| XR_939868.1:n.1772-646G>C (GTF3C2-AS2) | ||
| NM_001318965.1:c.1235C>G (EIF2B4) | NP_001305894.1:p.Ala412Gly | |
| NM_001318966.1:c.1127C>G (EIF2B4) | NP_001305895.1:p.Ala376Gly | |
| NM_001318967.1:c.1079C>G (EIF2B4) | NP_001305896.1:p.Ala360Gly | |
| NM_001318968.1:c.587C>G (EIF2B4) | NP_001305897.1:p.Ala196Gly | |
| NM_001318969.1:c.554C>G (EIF2B4) | NP_001305898.1:p.Ala185Gly | |
| XM_011533147.2:c.554C>G (EIF2B4) | XP_011531449.1:p.Ala185Gly | |
| NM_001034116.2:c.1172C>G (EIF2B4) MANE Select | NP_001029288.1:p.Ala391Gly | |
| NM_001318965.2:c.1235C>G (EIF2B4) | NP_001305894.1:p.Ala412Gly | |
| NM_001318966.2:c.1127C>G (EIF2B4) | NP_001305895.1:p.Ala376Gly | |
| NM_001318967.2:c.1079C>G (EIF2B4) | NP_001305896.1:p.Ala360Gly | |
| NM_001318968.2:c.587C>G (EIF2B4) | NP_001305897.1:p.Ala196Gly | |
| NM_001318969.2:c.554C>G (EIF2B4) | NP_001305898.1:p.Ala185Gly | |
| NM_015636.4:c.1169C>G (EIF2B4) | NP_056451.3:p.Ala390Gly | |
| NM_172195.4:c.1232C>G (EIF2B4) | NP_751945.2:p.Ala411Gly |