Linked Data
ClinVar Variation Id:
4118
dbSNP Id:
rs113994035
gnomAD v2:
2-27589697-G-A
gnomAD v3:
2-27366830-G-A
gnomAD v4:
2-27366830-G-A
PubMed:
PMID:11835386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27366830G>A , CM000664.2:g.27366830G>A | GRCh38 |
| NC_000002.11:g.27589697G>A , CM000664.1:g.27589697G>A | GRCh37 |
| NC_000002.10:g.27443201G>A | NCBI36 |
| NG_009305.1:g.8628C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.1120C>T (EIF2B4) MANE Select | ENSP00000233552.6:p.Arg374Cys | |
| ENST00000347454.8:c.1120C>T (EIF2B4) | ENSP00000233552.5:p.Arg374Cys | |
| ENST00000405940.6:c.*386C>T (EIF2B4) | ENSP00000384375.2:n.*386C>T | |
| ENST00000417567.1:c.694C>T (EIF2B4) | ||
| ENST00000445933.6:c.1117C>T (EIF2B4) | ENSP00000394397.2:p.Arg373Cys | |
| ENST00000451130.6:c.1180C>T (EIF2B4) | ENSP00000394869.2:p.Arg394Cys | |
| ENST00000475582.5:n.3021C>T (EIF2B4) | ||
| ENST00000493344.6:c.1183C>T (EIF2B4) | ENSP00000429323.1:p.Arg395Cys | |
| ENST00000616081.4:c.1111C>T (EIF2B4) | ENSP00000477710.1:p.Arg371Cys | |
| ENST00000622434.4:c.*386C>T (EIF2B4) | ENSP00000479991.1:n.*386C>T | |
| NM_001034116.1:c.1120C>T (EIF2B4) | NP_001029288.1:p.Arg374Cys | |
| NM_015636.3:c.1117C>T (EIF2B4) | NP_056451.3:p.Arg373Cys | |
| NM_172195.3:c.1180C>T (EIF2B4) | NP_751945.2:p.Arg394Cys | |
| XM_005264632.1:c.1075C>T (EIF2B4) | XP_005264689.1:p.Arg359Cys | |
| XM_006712132.1:c.1072C>T (EIF2B4) | XP_006712195.1:p.Arg358Cys | |
| XM_011533147.1:c.502C>T (EIF2B4) | XP_011531449.1:p.Arg168Cys | |
| XR_939868.1:n.1772-594G>A (GTF3C2-AS2) | ||
| NM_001318965.1:c.1183C>T (EIF2B4) | NP_001305894.1:p.Arg395Cys | |
| NM_001318966.1:c.1075C>T (EIF2B4) | NP_001305895.1:p.Arg359Cys | |
| NM_001318967.1:c.1027C>T (EIF2B4) | NP_001305896.1:p.Arg343Cys | |
| NM_001318968.1:c.535C>T (EIF2B4) | NP_001305897.1:p.Arg179Cys | |
| NM_001318969.1:c.502C>T (EIF2B4) | NP_001305898.1:p.Arg168Cys | |
| XM_011533147.2:c.502C>T (EIF2B4) | XP_011531449.1:p.Arg168Cys | |
| NM_001034116.2:c.1120C>T (EIF2B4) MANE Select | NP_001029288.1:p.Arg374Cys | |
| NM_001318965.2:c.1183C>T (EIF2B4) | NP_001305894.1:p.Arg395Cys | |
| NM_001318966.2:c.1075C>T (EIF2B4) | NP_001305895.1:p.Arg359Cys | |
| NM_001318967.2:c.1027C>T (EIF2B4) | NP_001305896.1:p.Arg343Cys | |
| NM_001318968.2:c.535C>T (EIF2B4) | NP_001305897.1:p.Arg179Cys | |
| NM_001318969.2:c.502C>T (EIF2B4) | NP_001305898.1:p.Arg168Cys | |
| NM_015636.4:c.1117C>T (EIF2B4) | NP_056451.3:p.Arg373Cys | |
| NM_172195.4:c.1180C>T (EIF2B4) | NP_751945.2:p.Arg394Cys |