Linked Data
ClinVar Variation Id:
2692765
ClinVar RCV Id:
RCV003543179
gnomAD v4:
2-27364745-TCTGCACACGCTCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364746_27364759del , CM000664.2:g.27364746_27364759del | GRCh38 |
| NC_000002.11:g.27587613_27587626del , CM000664.1:g.27587613_27587626del | GRCh37 |
| NC_000002.10:g.27441117_27441130del | NCBI36 |
| NG_009305.1:g.10699_10712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1331_1344del (EIF2B4) MANE Select | ENSP00000233552.6:p.Cys444TyrfsTer2 | |
| ENST00000347454.8:c.1331_1344del (EIF2B4) | ENSP00000233552.5:p.Cys444TyrfsTer2 | |
| ENST00000405940.6:c.*597_*610del (EIF2B4) | ENSP00000384375.2:n.*597_*610del | |
| ENST00000445933.6:c.1328_1341del (EIF2B4) | ENSP00000394397.2:p.Cys443TyrfsTer2 | |
| ENST00000451130.6:c.1391_1404del (EIF2B4) | ENSP00000394869.2:p.Cys464TyrfsTer2 | |
| ENST00000478311.1:n.324_337del (EIF2B4) | ||
| ENST00000493344.6:c.1394_1407del (EIF2B4) | ENSP00000429323.1:p.Cys465TyrfsTer2 | |
| ENST00000616081.4:c.1322_1335del (EIF2B4) | ENSP00000477710.1:p.Cys441TyrfsTer2 | |
| ENST00000622434.4:c.*597_*610del (EIF2B4) | ENSP00000479991.1:n.*597_*610del | |
| NM_001034116.1:c.1331_1344del (EIF2B4) | NP_001029288.1:p.Cys444TyrfsTer2 | |
| NM_015636.3:c.1328_1341del (EIF2B4) | NP_056451.3:p.Cys443TyrfsTer2 | |
| NM_172195.3:c.1391_1404del (EIF2B4) | NP_751945.2:p.Cys464TyrfsTer2 | |
| XM_005264632.1:c.1286_1299del (EIF2B4) | XP_005264689.1:p.Cys429TyrfsTer2 | |
| XM_006712132.1:c.1283_1296del (EIF2B4) | XP_006712195.1:p.Cys428TyrfsTer2 | |
| XM_011533147.1:c.713_726del (EIF2B4) | XP_011531449.1:p.Cys238TyrfsTer2 | |
| XR_939868.1:n.1772-2678_1772-2665del (GTF3C2-AS2) | ||
| NM_001318965.1:c.1394_1407del (EIF2B4) | NP_001305894.1:p.Cys465TyrfsTer2 | |
| NM_001318966.1:c.1286_1299del (EIF2B4) | NP_001305895.1:p.Cys429TyrfsTer2 | |
| NM_001318967.1:c.1238_1251del (EIF2B4) | NP_001305896.1:p.Cys413TyrfsTer2 | |
| NM_001318968.1:c.746_759del (EIF2B4) | NP_001305897.1:p.Cys249TyrfsTer2 | |
| NM_001318969.1:c.713_726del (EIF2B4) | NP_001305898.1:p.Cys238TyrfsTer2 | |
| XM_011533147.2:c.713_726del (EIF2B4) | XP_011531449.1:p.Cys238TyrfsTer2 | |
| NM_001034116.2:c.1331_1344del (EIF2B4) MANE Select | NP_001029288.1:p.Cys444TyrfsTer2 | |
| NM_001318965.2:c.1394_1407del (EIF2B4) | NP_001305894.1:p.Cys465TyrfsTer2 | |
| NM_001318966.2:c.1286_1299del (EIF2B4) | NP_001305895.1:p.Cys429TyrfsTer2 | |
| NM_001318967.2:c.1238_1251del (EIF2B4) | NP_001305896.1:p.Cys413TyrfsTer2 | |
| NM_001318968.2:c.746_759del (EIF2B4) | NP_001305897.1:p.Cys249TyrfsTer2 | |
| NM_001318969.2:c.713_726del (EIF2B4) | NP_001305898.1:p.Cys238TyrfsTer2 | |
| NM_015636.4:c.1328_1341del (EIF2B4) | NP_056451.3:p.Cys443TyrfsTer2 | |
| NM_172195.4:c.1391_1404del (EIF2B4) | NP_751945.2:p.Cys464TyrfsTer2 |