COSMIC:
COSM3765559 (not active)
Revel Score:
ENST00000381363
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59893404 (AMR)
Genomes Max Group AF
0.52412306 (AMR)
Exomes Max Group AF
0.62748927 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146313T>G , CM000673.2:g.2146313T>G | GRCh38 |
| NC_000011.9:g.2167543T>G , CM000673.1:g.2167543T>G | GRCh37 |
| NC_000011.8:g.2124119T>G | NCBI36 |
| NG_008849.1:g.8291A>C | |
| NG_050578.1:g.19897A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1253A>C (IGF2) | ENSP00000511998.1:n.-7+1253A>C | |
| ENST00000643349.2:c.*46+1253A>C | ENSP00000495715.1:n.*46+1253A>C | |
| ENST00000695541.1:c.-7+1253A>C (IGF2) | ENSP00000511997.1:n.-7+1253A>C | |
| ENST00000643349.1:c.*46+1253A>C | ENSP00000495715.1:n.*46+1253A>C | |
| ENST00000356578.8:c.*46+1253A>C (INS-IGF2) | ENSP00000348986.4:n.*46+1253A>C | |
| NM_001007139.5:c.-7+1253A>C (IGF2) | NP_001007140.2:n.-7+1253A>C | |
| NR_003512.3:n.708+1253A>C (INS-IGF2) | ||
| NR_028043.2:n.505T>G (IGF2-AS) | ||
| NR_133657.1:n.437-43T>G (IGF2-AS) | ||
| NR_003512.4:n.708+1253A>C (INS-IGF2) | ||
| NM_001007139.6:c.-7+1253A>C (IGF2) | NP_001007140.2:n.-7+1253A>C |