Linked Data
ClinVar Variation Id:
740617
ClinVar RCV Id:
RCV000916702
dbSNP Id:
rs569920172
ExAC:
20:32677551 A / G
gnomAD v2:
20-32677551-A-G
gnomAD v3:
20-34089745-A-G
gnomAD v4:
20-34089745-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34089745A>G , CM000682.2:g.34089745A>G | GRCh38 |
| NC_000020.10:g.32677551A>G , CM000682.1:g.32677551A>G | GRCh37 |
| NC_000020.9:g.32141212A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374980.3:c.987T>C (EIF2S2) MANE Select | ENSP00000364119.2:p.Arg329= | |
| ENST00000374980.2:c.987T>C (EIF2S2) | ENSP00000364119.2:p.Arg329= | |
| ENST00000489384.1:n.82+11192A>G (RALY) | ||
| NM_001316363.1:c.978T>C (EIF2S2) | NP_001303292.1:p.Arg326= | |
| NM_001316364.1:c.930T>C (EIF2S2) | NP_001303293.1:p.Arg310= | |
| NM_003908.3:c.987T>C (EIF2S2) | NP_003899.2:p.Arg329= | |
| NM_003908.4:c.987T>C (EIF2S2) | NP_003899.2:p.Arg329= | |
| XM_017028118.1:c.972T>C (EIF2S2) | XP_016883607.1:p.Arg324= | |
| NM_003908.5:c.987T>C (EIF2S2) MANE Select | NP_003899.2:p.Arg329= | |
| NM_001316363.2:c.978T>C (EIF2S2) | NP_001303292.1:p.Arg326= | |
| NM_001316364.2:c.930T>C (EIF2S2) | NP_001303293.1:p.Arg310= |