Linked Data
dbSNP Id:
rs139134121
ExAC:
2:27587758 T / C
gnomAD v2:
2-27587758-T-C
gnomAD v3:
2-27364891-T-C
gnomAD v4:
2-27364891-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364891T>C , CM000664.2:g.27364891T>C | GRCh38 |
| NC_000002.11:g.27587758T>C , CM000664.1:g.27587758T>C | GRCh37 |
| NC_000002.10:g.27441262T>C | NCBI36 |
| NG_009305.1:g.10567A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1199A>G (EIF2B4) MANE Select | ENSP00000233552.6:p.Lys400Arg | |
| ENST00000347454.8:c.1199A>G (EIF2B4) | ENSP00000233552.5:p.Lys400Arg | |
| ENST00000405940.6:c.*465A>G (EIF2B4) | ENSP00000384375.2:n.*465A>G | |
| ENST00000445933.6:c.1196A>G (EIF2B4) | ENSP00000394397.2:p.Lys399Arg | |
| ENST00000451130.6:c.1259A>G (EIF2B4) | ENSP00000394869.2:p.Lys420Arg | |
| ENST00000478311.1:n.192A>G (EIF2B4) | ||
| ENST00000493344.6:c.1262A>G (EIF2B4) | ENSP00000429323.1:p.Lys421Arg | |
| ENST00000616081.4:c.1190A>G (EIF2B4) | ENSP00000477710.1:p.Lys397Arg | |
| ENST00000622434.4:c.*465A>G (EIF2B4) | ENSP00000479991.1:n.*465A>G | |
| NM_001034116.1:c.1199A>G (EIF2B4) | NP_001029288.1:p.Lys400Arg | |
| NM_015636.3:c.1196A>G (EIF2B4) | NP_056451.3:p.Lys399Arg | |
| NM_172195.3:c.1259A>G (EIF2B4) | NP_751945.2:p.Lys420Arg | |
| XM_005264632.1:c.1154A>G (EIF2B4) | XP_005264689.1:p.Lys385Arg | |
| XM_006712132.1:c.1151A>G (EIF2B4) | XP_006712195.1:p.Lys384Arg | |
| XM_011533147.1:c.581A>G (EIF2B4) | XP_011531449.1:p.Lys194Arg | |
| XR_939868.1:n.1772-2533T>C (GTF3C2-AS2) | ||
| NM_001318965.1:c.1262A>G (EIF2B4) | NP_001305894.1:p.Lys421Arg | |
| NM_001318966.1:c.1154A>G (EIF2B4) | NP_001305895.1:p.Lys385Arg | |
| NM_001318967.1:c.1106A>G (EIF2B4) | NP_001305896.1:p.Lys369Arg | |
| NM_001318968.1:c.614A>G (EIF2B4) | NP_001305897.1:p.Lys205Arg | |
| NM_001318969.1:c.581A>G (EIF2B4) | NP_001305898.1:p.Lys194Arg | |
| XM_011533147.2:c.581A>G (EIF2B4) | XP_011531449.1:p.Lys194Arg | |
| NM_001034116.2:c.1199A>G (EIF2B4) MANE Select | NP_001029288.1:p.Lys400Arg | |
| NM_001318965.2:c.1262A>G (EIF2B4) | NP_001305894.1:p.Lys421Arg | |
| NM_001318966.2:c.1154A>G (EIF2B4) | NP_001305895.1:p.Lys385Arg | |
| NM_001318967.2:c.1106A>G (EIF2B4) | NP_001305896.1:p.Lys369Arg | |
| NM_001318968.2:c.614A>G (EIF2B4) | NP_001305897.1:p.Lys205Arg | |
| NM_001318969.2:c.581A>G (EIF2B4) | NP_001305898.1:p.Lys194Arg | |
| NM_015636.4:c.1196A>G (EIF2B4) | NP_056451.3:p.Lys399Arg | |
| NM_172195.4:c.1259A>G (EIF2B4) | NP_751945.2:p.Lys420Arg |