Linked Data
ClinVar Variation Id:
2671575
ClinVar RCV Id:
RCV003448660
dbSNP Id:
rs113994039
gnomAD v2:
2-27587392-G-A
gnomAD v4:
2-27364525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364525G>A , CM000664.2:g.27364525G>A | GRCh38 |
| NC_000002.11:g.27587392G>A , CM000664.1:g.27587392G>A | GRCh37 |
| NC_000002.10:g.27440896G>A | NCBI36 |
| NG_009305.1:g.10933C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.1447C>T (EIF2B4) MANE Select | ENSP00000233552.6:p.Arg483Trp | |
| ENST00000347454.8:c.1447C>T (EIF2B4) | ENSP00000233552.5:p.Arg483Trp | |
| ENST00000405940.6:c.*713C>T (EIF2B4) | ENSP00000384375.2:n.*713C>T | |
| ENST00000445933.6:c.1444C>T (EIF2B4) | ENSP00000394397.2:p.Arg482Trp | |
| ENST00000451130.6:c.1507C>T (EIF2B4) | ENSP00000394869.2:p.Arg503Trp | |
| ENST00000478311.1:n.440C>T (EIF2B4) | ||
| ENST00000493344.6:c.1510C>T (EIF2B4) | ENSP00000429323.1:p.Arg504Trp | |
| ENST00000616081.4:c.1438C>T (EIF2B4) | ENSP00000477710.1:p.Arg480Trp | |
| ENST00000622434.4:c.*713C>T (EIF2B4) | ENSP00000479991.1:n.*713C>T | |
| NM_001034116.1:c.1447C>T (EIF2B4) | NP_001029288.1:p.Arg483Trp | |
| NM_015636.3:c.1444C>T (EIF2B4) | NP_056451.3:p.Arg482Trp | |
| NM_172195.3:c.1507C>T (EIF2B4) | NP_751945.2:p.Arg503Trp | |
| XM_005264632.1:c.1402C>T (EIF2B4) | XP_005264689.1:p.Arg468Trp | |
| XM_006712132.1:c.1399C>T (EIF2B4) | XP_006712195.1:p.Arg467Trp | |
| XM_011533147.1:c.829C>T (EIF2B4) | XP_011531449.1:p.Arg277Trp | |
| XR_939868.1:n.1772-2899G>A (GTF3C2-AS2) | ||
| NM_001318965.1:c.1510C>T (EIF2B4) | NP_001305894.1:p.Arg504Trp | |
| NM_001318966.1:c.1402C>T (EIF2B4) | NP_001305895.1:p.Arg468Trp | |
| NM_001318967.1:c.1354C>T (EIF2B4) | NP_001305896.1:p.Arg452Trp | |
| NM_001318968.1:c.862C>T (EIF2B4) | NP_001305897.1:p.Arg288Trp | |
| NM_001318969.1:c.829C>T (EIF2B4) | NP_001305898.1:p.Arg277Trp | |
| XM_011533147.2:c.829C>T (EIF2B4) | XP_011531449.1:p.Arg277Trp | |
| NM_001034116.2:c.1447C>T (EIF2B4) MANE Select | NP_001029288.1:p.Arg483Trp | |
| NM_001318965.2:c.1510C>T (EIF2B4) | NP_001305894.1:p.Arg504Trp | |
| NM_001318966.2:c.1402C>T (EIF2B4) | NP_001305895.1:p.Arg468Trp | |
| NM_001318967.2:c.1354C>T (EIF2B4) | NP_001305896.1:p.Arg452Trp | |
| NM_001318968.2:c.862C>T (EIF2B4) | NP_001305897.1:p.Arg288Trp | |
| NM_001318969.2:c.829C>T (EIF2B4) | NP_001305898.1:p.Arg277Trp | |
| NM_015636.4:c.1444C>T (EIF2B4) | NP_056451.3:p.Arg482Trp | |
| NM_172195.4:c.1507C>T (EIF2B4) | NP_751945.2:p.Arg503Trp |