Linked Data
ClinVar Variation Id:
4121
ClinVar RCV Id:
RCV003221397
dbSNP Id:
rs113994038
gnomAD v3:
2-27364579-A-G
gnomAD v4:
2-27364579-A-G
PubMed:
PMID:12707859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364579A>G , CM000664.2:g.27364579A>G | GRCh38 |
| NC_000002.11:g.27587446A>G , CM000664.1:g.27587446A>G | GRCh37 |
| NC_000002.10:g.27440950A>G | NCBI36 |
| NG_009305.1:g.10879T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.1393T>C (EIF2B4) MANE Select | ENSP00000233552.6:p.Cys465Arg | |
| ENST00000347454.8:c.1393T>C (EIF2B4) | ENSP00000233552.5:p.Cys465Arg | |
| ENST00000405940.6:c.*659T>C (EIF2B4) | ENSP00000384375.2:n.*659T>C | |
| ENST00000445933.6:c.1390T>C (EIF2B4) | ENSP00000394397.2:p.Cys464Arg | |
| ENST00000451130.6:c.1453T>C (EIF2B4) | ENSP00000394869.2:p.Cys485Arg | |
| ENST00000478311.1:n.386T>C (EIF2B4) | ||
| ENST00000493344.6:c.1456T>C (EIF2B4) | ENSP00000429323.1:p.Cys486Arg | |
| ENST00000616081.4:c.1384T>C (EIF2B4) | ENSP00000477710.1:p.Cys462Arg | |
| ENST00000622434.4:c.*659T>C (EIF2B4) | ENSP00000479991.1:n.*659T>C | |
| NM_001034116.1:c.1393T>C (EIF2B4) | NP_001029288.1:p.Cys465Arg | |
| NM_015636.3:c.1390T>C (EIF2B4) | NP_056451.3:p.Cys464Arg | |
| NM_172195.3:c.1453T>C (EIF2B4) | NP_751945.2:p.Cys485Arg | |
| XM_005264632.1:c.1348T>C (EIF2B4) | XP_005264689.1:p.Cys450Arg | |
| XM_006712132.1:c.1345T>C (EIF2B4) | XP_006712195.1:p.Cys449Arg | |
| XM_011533147.1:c.775T>C (EIF2B4) | XP_011531449.1:p.Cys259Arg | |
| XR_939868.1:n.1772-2845A>G (GTF3C2-AS2) | ||
| NM_001318965.1:c.1456T>C (EIF2B4) | NP_001305894.1:p.Cys486Arg | |
| NM_001318966.1:c.1348T>C (EIF2B4) | NP_001305895.1:p.Cys450Arg | |
| NM_001318967.1:c.1300T>C (EIF2B4) | NP_001305896.1:p.Cys434Arg | |
| NM_001318968.1:c.808T>C (EIF2B4) | NP_001305897.1:p.Cys270Arg | |
| NM_001318969.1:c.775T>C (EIF2B4) | NP_001305898.1:p.Cys259Arg | |
| XM_011533147.2:c.775T>C (EIF2B4) | XP_011531449.1:p.Cys259Arg | |
| NM_001034116.2:c.1393T>C (EIF2B4) MANE Select | NP_001029288.1:p.Cys465Arg | |
| NM_001318965.2:c.1456T>C (EIF2B4) | NP_001305894.1:p.Cys486Arg | |
| NM_001318966.2:c.1348T>C (EIF2B4) | NP_001305895.1:p.Cys450Arg | |
| NM_001318967.2:c.1300T>C (EIF2B4) | NP_001305896.1:p.Cys434Arg | |
| NM_001318968.2:c.808T>C (EIF2B4) | NP_001305897.1:p.Cys270Arg | |
| NM_001318969.2:c.775T>C (EIF2B4) | NP_001305898.1:p.Cys259Arg | |
| NM_015636.4:c.1390T>C (EIF2B4) | NP_056451.3:p.Cys464Arg | |
| NM_172195.4:c.1453T>C (EIF2B4) | NP_751945.2:p.Cys485Arg |