Linked Data
ClinVar Variation Id:
2792119
ClinVar RCV Id:
RCV003674881
MyVariant Identifiers:
chr2:g.27587709T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364842T>C , CM000664.2:g.27364842T>C | GRCh38 |
| NC_000002.11:g.27587709T>C , CM000664.1:g.27587709T>C | GRCh37 |
| NC_000002.10:g.27441213T>C | NCBI36 |
| NG_009305.1:g.10616A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1248A>G (EIF2B4) MANE Select | ENSP00000233552.6:p.Ser416= | |
| ENST00000347454.8:c.1248A>G (EIF2B4) | ENSP00000233552.5:p.Ser416= | |
| ENST00000405940.6:c.*514A>G (EIF2B4) | ENSP00000384375.2:n.*514A>G | |
| ENST00000445933.6:c.1245A>G (EIF2B4) | ENSP00000394397.2:p.Ser415= | |
| ENST00000451130.6:c.1308A>G (EIF2B4) | ENSP00000394869.2:p.Ser436= | |
| ENST00000478311.1:n.241A>G (EIF2B4) | ||
| ENST00000493344.6:c.1311A>G (EIF2B4) | ENSP00000429323.1:p.Ser437= | |
| ENST00000616081.4:c.1239A>G (EIF2B4) | ENSP00000477710.1:p.Ser413= | |
| ENST00000622434.4:c.*514A>G (EIF2B4) | ENSP00000479991.1:n.*514A>G | |
| NM_001034116.1:c.1248A>G (EIF2B4) | NP_001029288.1:p.Ser416= | |
| NM_015636.3:c.1245A>G (EIF2B4) | NP_056451.3:p.Ser415= | |
| NM_172195.3:c.1308A>G (EIF2B4) | NP_751945.2:p.Ser436= | |
| XM_005264632.1:c.1203A>G (EIF2B4) | XP_005264689.1:p.Ser401= | |
| XM_006712132.1:c.1200A>G (EIF2B4) | XP_006712195.1:p.Ser400= | |
| XM_011533147.1:c.630A>G (EIF2B4) | XP_011531449.1:p.Ser210= | |
| XR_939868.1:n.1772-2582T>C (GTF3C2-AS2) | ||
| NM_001318965.1:c.1311A>G (EIF2B4) | NP_001305894.1:p.Ser437= | |
| NM_001318966.1:c.1203A>G (EIF2B4) | NP_001305895.1:p.Ser401= | |
| NM_001318967.1:c.1155A>G (EIF2B4) | NP_001305896.1:p.Ser385= | |
| NM_001318968.1:c.663A>G (EIF2B4) | NP_001305897.1:p.Ser221= | |
| NM_001318969.1:c.630A>G (EIF2B4) | NP_001305898.1:p.Ser210= | |
| XM_011533147.2:c.630A>G (EIF2B4) | XP_011531449.1:p.Ser210= | |
| NM_001034116.2:c.1248A>G (EIF2B4) MANE Select | NP_001029288.1:p.Ser416= | |
| NM_001318965.2:c.1311A>G (EIF2B4) | NP_001305894.1:p.Ser437= | |
| NM_001318966.2:c.1203A>G (EIF2B4) | NP_001305895.1:p.Ser401= | |
| NM_001318967.2:c.1155A>G (EIF2B4) | NP_001305896.1:p.Ser385= | |
| NM_001318968.2:c.663A>G (EIF2B4) | NP_001305897.1:p.Ser221= | |
| NM_001318969.2:c.630A>G (EIF2B4) | NP_001305898.1:p.Ser210= | |
| NM_015636.4:c.1245A>G (EIF2B4) | NP_056451.3:p.Ser415= | |
| NM_172195.4:c.1308A>G (EIF2B4) | NP_751945.2:p.Ser436= |