gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97584668 (EAS)
Genomes Max Group AF
0.97584668 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2143569G>C , CM000673.2:g.2143569G>C | GRCh38 |
| NC_000011.9:g.2164799G>C , CM000673.1:g.2164799G>C | GRCh37 |
| NC_000011.8:g.2121375G>C | NCBI36 |
| NG_008849.1:g.11035C>G | |
| NG_050578.1:g.22641C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+3997C>G (IGF2) | ENSP00000511998.1:n.-7+3997C>G | |
| ENST00000643349.2:c.*46+3997C>G | ENSP00000495715.1:n.*46+3997C>G | |
| ENST00000695541.1:c.-7+3997C>G (IGF2) | ENSP00000511997.1:n.-7+3997C>G | |
| ENST00000643349.1:c.*46+3997C>G | ENSP00000495715.1:n.*46+3997C>G | |
| ENST00000356578.8:c.*46+3997C>G (INS-IGF2) | ENSP00000348986.4:n.*46+3997C>G | |
| NM_001007139.5:c.-7+3997C>G (IGF2) | NP_001007140.2:n.-7+3997C>G | |
| NR_003512.3:n.708+3997C>G (INS-IGF2) | ||
| NR_028043.2:n.436+2622G>C (IGF2-AS) | ||
| NR_133657.1:n.436+2622G>C (IGF2-AS) | ||
| NR_003512.4:n.708+3997C>G (INS-IGF2) | ||
| NM_001007139.6:c.-7+3997C>G (IGF2) | NP_001007140.2:n.-7+3997C>G |