Linked Data
dbSNP Id:
rs17883084
gnomAD v2:
11-2169862-T-C
gnomAD v3:
11-2148632-T-C
gnomAD v4:
11-2148632-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2148632T>C , CM000673.2:g.2148632T>C | GRCh38 |
| NC_000011.9:g.2169862T>C , CM000673.1:g.2169862T>C | GRCh37 |
| NC_000011.8:g.2126438T>C | NCBI36 |
| NG_008849.1:g.5972A>G | |
| NG_050578.1:g.17578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-249+494A>G (IGF2) | ENSP00000511998.1:n.-249+494A>G | |
| ENST00000643349.2:c.254+494A>G | ENSP00000495715.1:n.254+494A>G | |
| ENST00000695541.1:c.-249+494A>G (IGF2) | ENSP00000511997.1:n.-249+494A>G | |
| ENST00000481781.2:n.345+494A>G | ||
| ENST00000643349.1:c.254+494A>G | ENSP00000495715.1:n.254+494A>G | |
| ENST00000356578.8:c.407+494A>G (INS-IGF2) | ENSP00000348986.4:n.407+494A>G | |
| ENST00000397270.1:c.407+494A>G (INS-IGF2) | ENSP00000380440.1:n.407+494A>G | |
| ENST00000481781.1:n.612+494A>G (INS-IGF2) | ||
| NM_001007139.5:c.-249+494A>G (IGF2) | NP_001007140.2:n.-249+494A>G | |
| NM_001042376.2:c.407+494A>G (INS-IGF2) | NP_001035835.1:n.407+494A>G | |
| NR_003512.3:n.466+494A>G (INS-IGF2) | ||
| NR_028043.2:n.2034T>C (IGF2-AS) | ||
| NR_133657.1:n.1923T>C (IGF2-AS) | ||
| NM_001042376.3:c.407+494A>G (INS-IGF2) | NP_001035835.1:n.407+494A>G | |
| NR_003512.4:n.466+494A>G (INS-IGF2) | ||
| NM_001007139.6:c.-249+494A>G (IGF2) | NP_001007140.2:n.-249+494A>G |