Linked Data
dbSNP Id:
rs759669141
ExAC:
2:27587621 G / A
gnomAD v2:
2-27587621-G-A
gnomAD v4:
2-27364754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364754G>A , CM000664.2:g.27364754G>A | GRCh38 |
| NC_000002.11:g.27587621G>A , CM000664.1:g.27587621G>A | GRCh37 |
| NC_000002.10:g.27441125G>A | NCBI36 |
| NG_009305.1:g.10704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1336C>T (EIF2B4) MANE Select | ENSP00000233552.6:p.Arg446Cys | |
| ENST00000347454.8:c.1336C>T (EIF2B4) | ENSP00000233552.5:p.Arg446Cys | |
| ENST00000405940.6:c.*602C>T (EIF2B4) | ENSP00000384375.2:n.*602C>T | |
| ENST00000445933.6:c.1333C>T (EIF2B4) | ENSP00000394397.2:p.Arg445Cys | |
| ENST00000451130.6:c.1396C>T (EIF2B4) | ENSP00000394869.2:p.Arg466Cys | |
| ENST00000478311.1:n.329C>T (EIF2B4) | ||
| ENST00000493344.6:c.1399C>T (EIF2B4) | ENSP00000429323.1:p.Arg467Cys | |
| ENST00000616081.4:c.1327C>T (EIF2B4) | ENSP00000477710.1:p.Arg443Cys | |
| ENST00000622434.4:c.*602C>T (EIF2B4) | ENSP00000479991.1:n.*602C>T | |
| NM_001034116.1:c.1336C>T (EIF2B4) | NP_001029288.1:p.Arg446Cys | |
| NM_015636.3:c.1333C>T (EIF2B4) | NP_056451.3:p.Arg445Cys | |
| NM_172195.3:c.1396C>T (EIF2B4) | NP_751945.2:p.Arg466Cys | |
| XM_005264632.1:c.1291C>T (EIF2B4) | XP_005264689.1:p.Arg431Cys | |
| XM_006712132.1:c.1288C>T (EIF2B4) | XP_006712195.1:p.Arg430Cys | |
| XM_011533147.1:c.718C>T (EIF2B4) | XP_011531449.1:p.Arg240Cys | |
| XR_939868.1:n.1772-2670G>A (GTF3C2-AS2) | ||
| NM_001318965.1:c.1399C>T (EIF2B4) | NP_001305894.1:p.Arg467Cys | |
| NM_001318966.1:c.1291C>T (EIF2B4) | NP_001305895.1:p.Arg431Cys | |
| NM_001318967.1:c.1243C>T (EIF2B4) | NP_001305896.1:p.Arg415Cys | |
| NM_001318968.1:c.751C>T (EIF2B4) | NP_001305897.1:p.Arg251Cys | |
| NM_001318969.1:c.718C>T (EIF2B4) | NP_001305898.1:p.Arg240Cys | |
| XM_011533147.2:c.718C>T (EIF2B4) | XP_011531449.1:p.Arg240Cys | |
| NM_001034116.2:c.1336C>T (EIF2B4) MANE Select | NP_001029288.1:p.Arg446Cys | |
| NM_001318965.2:c.1399C>T (EIF2B4) | NP_001305894.1:p.Arg467Cys | |
| NM_001318966.2:c.1291C>T (EIF2B4) | NP_001305895.1:p.Arg431Cys | |
| NM_001318967.2:c.1243C>T (EIF2B4) | NP_001305896.1:p.Arg415Cys | |
| NM_001318968.2:c.751C>T (EIF2B4) | NP_001305897.1:p.Arg251Cys | |
| NM_001318969.2:c.718C>T (EIF2B4) | NP_001305898.1:p.Arg240Cys | |
| NM_015636.4:c.1333C>T (EIF2B4) | NP_056451.3:p.Arg445Cys | |
| NM_172195.4:c.1396C>T (EIF2B4) | NP_751945.2:p.Arg466Cys |