Linked Data
ClinVar Variation Id:
225106
dbSNP Id:
rs869312968
gnomAD v3:
7-6023301-A-G
gnomAD v4:
7-6023301-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6023301A>G , CM000669.2:g.6023301A>G | GRCh38 |
| NC_000007.13:g.6062932A>G , CM000669.1:g.6062932A>G | GRCh37 |
| NC_000007.12:g.6029458A>G | NCBI36 |
| NG_050738.1:g.19051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199389.11:c.*1372T>C (EIF2AK1) MANE Select | ENSP00000199389.6:n.*1372T>C | |
| ENST00000223029.8:c.575-2A>G (AIMP2) MANE Select | ENSP00000223029.3:n.575-2A>G | |
| ENST00000199389.10:c.*1372T>C (EIF2AK1) | ENSP00000199389.6:n.*1372T>C | |
| ENST00000223029.7:c.575-2A>G (AIMP2) | ENSP00000223029.3:n.575-2A>G | |
| ENST00000395236.2:c.368-2A>G (AIMP2) | ENSP00000378658.2:n.368-2A>G | |
| ENST00000400479.6:c.341-2A>G (AIMP2) | ENSP00000383327.2:n.341-2A>G | |
| ENST00000422786.1:c.657T>C (EIF2AK1) | ||
| NM_001134335.1:c.*1372T>C (EIF2AK1) | NP_001127807.1:n.*1372T>C | |
| NM_006303.3:c.575-2A>G (AIMP2) | NP_006294.2:n.575-2A>G | |
| NM_014413.3:c.*1372T>C (EIF2AK1) | NP_055228.2:n.*1372T>C | |
| XM_005249847.2:c.554-2A>G (AIMP2) | XP_005249904.1:n.554-2A>G | |
| XM_005249848.1:c.455-2A>G (AIMP2) | XP_005249905.1:n.455-2A>G | |
| XM_005249850.2:c.341-2A>G (AIMP2) | XP_005249907.1:n.341-2A>G | |
| XM_006715772.2:c.443-2A>G (AIMP2) | XP_006715835.1:n.443-2A>G | |
| XM_011515519.1:c.488-2A>G (AIMP2) | XP_011513821.1:n.488-2A>G | |
| NM_001326606.1:c.455-2A>G (AIMP2) | NP_001313535.1:n.455-2A>G | |
| NM_001326607.1:c.368-2A>G (AIMP2) | NP_001313536.1:n.368-2A>G | |
| NM_001326609.1:c.341-2A>G (AIMP2) | NP_001313538.1:n.341-2A>G | |
| NM_001326610.1:c.341-2A>G (AIMP2) | NP_001313539.1:n.341-2A>G | |
| NM_001326611.2:c.341-2A>G (AIMP2) | NP_001313540.1:n.341-2A>G | |
| NM_001362785.1:c.488-2A>G (AIMP2) | NP_001349714.1:n.488-2A>G | |
| NM_001362787.1:c.443-2A>G (AIMP2) | NP_001349716.1:n.443-2A>G | |
| XM_005249847.3:c.554-2A>G (AIMP2) | XP_005249904.1:n.554-2A>G | |
| NM_006303.4:c.575-2A>G (AIMP2) MANE Select | NP_006294.2:n.575-2A>G | |
| NM_014413.4:c.*1372T>C (EIF2AK1) MANE Select | NP_055228.2:n.*1372T>C | |
| NM_001134335.2:c.*1372T>C (EIF2AK1) | NP_001127807.1:n.*1372T>C | |
| NM_001326606.2:c.455-2A>G (AIMP2) | NP_001313535.1:n.455-2A>G | |
| NM_001326607.2:c.368-2A>G (AIMP2) | NP_001313536.1:n.368-2A>G | |
| NM_001326609.2:c.341-2A>G (AIMP2) | NP_001313538.1:n.341-2A>G | |
| NM_001326610.2:c.341-2A>G (AIMP2) | NP_001313539.1:n.341-2A>G | |
| NM_001326611.3:c.341-2A>G (AIMP2) | NP_001313540.1:n.341-2A>G | |
| NM_001362785.2:c.488-2A>G (AIMP2) | NP_001349714.1:n.488-2A>G | |
| NM_001362787.2:c.443-2A>G (AIMP2) | NP_001349716.1:n.443-2A>G |