Linked Data
ClinVar Variation Id:
2710295
ClinVar RCV Id:
RCV003550360
dbSNP Id:
rs756024921
ExAC:
2:27587727 G / A
gnomAD v2:
2-27587727-G-A
gnomAD v4:
2-27364860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27364860G>A , CM000664.2:g.27364860G>A | GRCh38 |
| NC_000002.11:g.27587727G>A , CM000664.1:g.27587727G>A | GRCh37 |
| NC_000002.10:g.27441231G>A | NCBI36 |
| NG_009305.1:g.10598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.1230C>T (EIF2B4) MANE Select | ENSP00000233552.6:p.Ala410= | |
| ENST00000347454.8:c.1230C>T (EIF2B4) | ENSP00000233552.5:p.Ala410= | |
| ENST00000405940.6:c.*496C>T (EIF2B4) | ENSP00000384375.2:n.*496C>T | |
| ENST00000445933.6:c.1227C>T (EIF2B4) | ENSP00000394397.2:p.Ala409= | |
| ENST00000451130.6:c.1290C>T (EIF2B4) | ENSP00000394869.2:p.Ala430= | |
| ENST00000478311.1:n.223C>T (EIF2B4) | ||
| ENST00000493344.6:c.1293C>T (EIF2B4) | ENSP00000429323.1:p.Ala431= | |
| ENST00000616081.4:c.1221C>T (EIF2B4) | ENSP00000477710.1:p.Ala407= | |
| ENST00000622434.4:c.*496C>T (EIF2B4) | ENSP00000479991.1:n.*496C>T | |
| NM_001034116.1:c.1230C>T (EIF2B4) | NP_001029288.1:p.Ala410= | |
| NM_015636.3:c.1227C>T (EIF2B4) | NP_056451.3:p.Ala409= | |
| NM_172195.3:c.1290C>T (EIF2B4) | NP_751945.2:p.Ala430= | |
| XM_005264632.1:c.1185C>T (EIF2B4) | XP_005264689.1:p.Ala395= | |
| XM_006712132.1:c.1182C>T (EIF2B4) | XP_006712195.1:p.Ala394= | |
| XM_011533147.1:c.612C>T (EIF2B4) | XP_011531449.1:p.Ala204= | |
| XR_939868.1:n.1772-2564G>A (GTF3C2-AS2) | ||
| NM_001318965.1:c.1293C>T (EIF2B4) | NP_001305894.1:p.Ala431= | |
| NM_001318966.1:c.1185C>T (EIF2B4) | NP_001305895.1:p.Ala395= | |
| NM_001318967.1:c.1137C>T (EIF2B4) | NP_001305896.1:p.Ala379= | |
| NM_001318968.1:c.645C>T (EIF2B4) | NP_001305897.1:p.Ala215= | |
| NM_001318969.1:c.612C>T (EIF2B4) | NP_001305898.1:p.Ala204= | |
| XM_011533147.2:c.612C>T (EIF2B4) | XP_011531449.1:p.Ala204= | |
| NM_001034116.2:c.1230C>T (EIF2B4) MANE Select | NP_001029288.1:p.Ala410= | |
| NM_001318965.2:c.1293C>T (EIF2B4) | NP_001305894.1:p.Ala431= | |
| NM_001318966.2:c.1185C>T (EIF2B4) | NP_001305895.1:p.Ala395= | |
| NM_001318967.2:c.1137C>T (EIF2B4) | NP_001305896.1:p.Ala379= | |
| NM_001318968.2:c.645C>T (EIF2B4) | NP_001305897.1:p.Ala215= | |
| NM_001318969.2:c.612C>T (EIF2B4) | NP_001305898.1:p.Ala204= | |
| NM_015636.4:c.1227C>T (EIF2B4) | NP_056451.3:p.Ala409= | |
| NM_172195.4:c.1290C>T (EIF2B4) | NP_751945.2:p.Ala430= |