Linked Data
ClinVar Variation Id:
4122
ClinVar RCV Id:
RCV003221398
dbSNP Id:
rs113994040
ExAC:
2:27587374 A / G
gnomAD v2:
2-27587374-A-G
gnomAD v3:
2-27364507-A-G
gnomAD v4:
2-27364507-A-G
PubMed:
PMID:12707859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364507A>G , CM000664.2:g.27364507A>G | GRCh38 |
| NC_000002.11:g.27587374A>G , CM000664.1:g.27587374A>G | GRCh37 |
| NC_000002.10:g.27440878A>G | NCBI36 |
| NG_009305.1:g.10951T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.1465T>C (EIF2B4) MANE Select | ENSP00000233552.6:p.Tyr489His | |
| ENST00000347454.8:c.1465T>C (EIF2B4) | ENSP00000233552.5:p.Tyr489His | |
| ENST00000405940.6:c.*731T>C (EIF2B4) | ENSP00000384375.2:n.*731T>C | |
| ENST00000445933.6:c.1462T>C (EIF2B4) | ENSP00000394397.2:p.Tyr488His | |
| ENST00000451130.6:c.1525T>C (EIF2B4) | ENSP00000394869.2:p.Tyr509His | |
| ENST00000478311.1:n.458T>C (EIF2B4) | ||
| ENST00000493344.6:c.1528T>C (EIF2B4) | ENSP00000429323.1:p.Tyr510His | |
| ENST00000616081.4:c.1456T>C (EIF2B4) | ENSP00000477710.1:p.Tyr486His | |
| ENST00000622434.4:c.*731T>C (EIF2B4) | ENSP00000479991.1:n.*731T>C | |
| NM_001034116.1:c.1465T>C (EIF2B4) | NP_001029288.1:p.Tyr489His | |
| NM_015636.3:c.1462T>C (EIF2B4) | NP_056451.3:p.Tyr488His | |
| NM_172195.3:c.1525T>C (EIF2B4) | NP_751945.2:p.Tyr509His | |
| XM_005264632.1:c.1420T>C (EIF2B4) | XP_005264689.1:p.Tyr474His | |
| XM_006712132.1:c.1417T>C (EIF2B4) | XP_006712195.1:p.Tyr473His | |
| XM_011533147.1:c.847T>C (EIF2B4) | XP_011531449.1:p.Tyr283His | |
| XR_939868.1:n.1772-2917A>G (GTF3C2-AS2) | ||
| NM_001318965.1:c.1528T>C (EIF2B4) | NP_001305894.1:p.Tyr510His | |
| NM_001318966.1:c.1420T>C (EIF2B4) | NP_001305895.1:p.Tyr474His | |
| NM_001318967.1:c.1372T>C (EIF2B4) | NP_001305896.1:p.Tyr458His | |
| NM_001318968.1:c.880T>C (EIF2B4) | NP_001305897.1:p.Tyr294His | |
| NM_001318969.1:c.847T>C (EIF2B4) | NP_001305898.1:p.Tyr283His | |
| XM_011533147.2:c.847T>C (EIF2B4) | XP_011531449.1:p.Tyr283His | |
| NM_001034116.2:c.1465T>C (EIF2B4) MANE Select | NP_001029288.1:p.Tyr489His | |
| NM_001318965.2:c.1528T>C (EIF2B4) | NP_001305894.1:p.Tyr510His | |
| NM_001318966.2:c.1420T>C (EIF2B4) | NP_001305895.1:p.Tyr474His | |
| NM_001318967.2:c.1372T>C (EIF2B4) | NP_001305896.1:p.Tyr458His | |
| NM_001318968.2:c.880T>C (EIF2B4) | NP_001305897.1:p.Tyr294His | |
| NM_001318969.2:c.847T>C (EIF2B4) | NP_001305898.1:p.Tyr283His | |
| NM_015636.4:c.1462T>C (EIF2B4) | NP_056451.3:p.Tyr488His | |
| NM_172195.4:c.1525T>C (EIF2B4) | NP_751945.2:p.Tyr509His |