Linked Data
ClinVar Variation Id:
714497
ClinVar RCV Id:
RCV000886809
dbSNP Id:
rs35078262
ExAC:
11:10821881 T / C
gnomAD v2:
11-10821881-T-C
gnomAD v3:
11-10800334-T-C
gnomAD v4:
11-10800334-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10800334T>C , CM000673.2:g.10800334T>C | GRCh38 |
| NC_000011.9:g.10821881T>C , CM000673.1:g.10821881T>C | GRCh37 |
| NC_000011.8:g.10778457T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525972.6:n.2053A>G (EIF4G2) | ||
| ENST00000339995.11:c.1875A>G (EIF4G2) MANE Select | ENSP00000340281.6:p.Val625= | |
| ENST00000396525.7:c.1761A>G (EIF4G2) | ENSP00000379778.3:p.Val587= | |
| ENST00000525681.6:c.1875A>G (EIF4G2) | ENSP00000433371.2:p.Val625= | |
| ENST00000526148.6:c.1875A>G (EIF4G2) | ENSP00000433664.2:p.Val625= | |
| ENST00000532365.2:c.407-1121T>C (CTR9) | ENSP00000493551.1:n.407-1121T>C | |
| ENST00000339995.9:c.1875A>G (EIF4G2) | ENSP00000340281.5:p.Val625= | |
| ENST00000396525.6:c.1761A>G (EIF4G2) | ENSP00000379778.2:p.Val587= | |
| ENST00000525681.5:c.1875A>G (EIF4G2) | ENSP00000433371.1:p.Val625= | |
| ENST00000526148.5:c.1875A>G (EIF4G2) | ENSP00000433664.1:p.Val625= | |
| ENST00000528839.1:c.66A>G (EIF4G2) | ENSP00000434815.1:p.Val22= | |
| ENST00000531180.1:c.390A>G (EIF4G2) | ENSP00000433561.1:p.Val130= | |
| ENST00000532120.1:n.53+1960A>G (EIF4G2) | ||
| ENST00000532383.5:n.4825A>G (EIF4G2) | ||
| NM_001042559.2:c.1761A>G (EIF4G2) | NP_001036024.3:p.Val587= | |
| NM_001172705.1:c.1875A>G (EIF4G2) | NP_001166176.1:p.Val625= | |
| NM_001418.3:c.1875A>G (EIF4G2) | NP_001409.3:p.Val625= | |
| NM_001418.4:c.1875A>G (EIF4G2) MANE Select | NP_001409.3:p.Val625= | |
| NM_001042559.3:c.1761A>G (EIF4G2) | NP_001036024.3:p.Val587= |