Linked Data
dbSNP Id:
rs377146994
ExAC:
2:27587674 C / T
gnomAD v2:
2-27587674-C-T
gnomAD v3:
2-27364807-C-T
gnomAD v4:
2-27364807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364807C>T , CM000664.2:g.27364807C>T | GRCh38 |
| NC_000002.11:g.27587674C>T , CM000664.1:g.27587674C>T | GRCh37 |
| NC_000002.10:g.27441178C>T | NCBI36 |
| NG_009305.1:g.10651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1283G>A (EIF2B4) MANE Select | ENSP00000233552.6:p.Arg428Gln | |
| ENST00000347454.8:c.1283G>A (EIF2B4) | ENSP00000233552.5:p.Arg428Gln | |
| ENST00000405940.6:c.*549G>A (EIF2B4) | ENSP00000384375.2:n.*549G>A | |
| ENST00000445933.6:c.1280G>A (EIF2B4) | ENSP00000394397.2:p.Arg427Gln | |
| ENST00000451130.6:c.1343G>A (EIF2B4) | ENSP00000394869.2:p.Arg448Gln | |
| ENST00000478311.1:n.276G>A (EIF2B4) | ||
| ENST00000493344.6:c.1346G>A (EIF2B4) | ENSP00000429323.1:p.Arg449Gln | |
| ENST00000616081.4:c.1274G>A (EIF2B4) | ENSP00000477710.1:p.Arg425Gln | |
| ENST00000622434.4:c.*549G>A (EIF2B4) | ENSP00000479991.1:n.*549G>A | |
| NM_001034116.1:c.1283G>A (EIF2B4) | NP_001029288.1:p.Arg428Gln | |
| NM_015636.3:c.1280G>A (EIF2B4) | NP_056451.3:p.Arg427Gln | |
| NM_172195.3:c.1343G>A (EIF2B4) | NP_751945.2:p.Arg448Gln | |
| XM_005264632.1:c.1238G>A (EIF2B4) | XP_005264689.1:p.Arg413Gln | |
| XM_006712132.1:c.1235G>A (EIF2B4) | XP_006712195.1:p.Arg412Gln | |
| XM_011533147.1:c.665G>A (EIF2B4) | XP_011531449.1:p.Arg222Gln | |
| XR_939868.1:n.1772-2617C>T (GTF3C2-AS2) | ||
| NM_001318965.1:c.1346G>A (EIF2B4) | NP_001305894.1:p.Arg449Gln | |
| NM_001318966.1:c.1238G>A (EIF2B4) | NP_001305895.1:p.Arg413Gln | |
| NM_001318967.1:c.1190G>A (EIF2B4) | NP_001305896.1:p.Arg397Gln | |
| NM_001318968.1:c.698G>A (EIF2B4) | NP_001305897.1:p.Arg233Gln | |
| NM_001318969.1:c.665G>A (EIF2B4) | NP_001305898.1:p.Arg222Gln | |
| XM_011533147.2:c.665G>A (EIF2B4) | XP_011531449.1:p.Arg222Gln | |
| NM_001034116.2:c.1283G>A (EIF2B4) MANE Select | NP_001029288.1:p.Arg428Gln | |
| NM_001318965.2:c.1346G>A (EIF2B4) | NP_001305894.1:p.Arg449Gln | |
| NM_001318966.2:c.1238G>A (EIF2B4) | NP_001305895.1:p.Arg413Gln | |
| NM_001318967.2:c.1190G>A (EIF2B4) | NP_001305896.1:p.Arg397Gln | |
| NM_001318968.2:c.698G>A (EIF2B4) | NP_001305897.1:p.Arg233Gln | |
| NM_001318969.2:c.665G>A (EIF2B4) | NP_001305898.1:p.Arg222Gln | |
| NM_015636.4:c.1280G>A (EIF2B4) | NP_056451.3:p.Arg427Gln | |
| NM_172195.4:c.1343G>A (EIF2B4) | NP_751945.2:p.Arg448Gln |