Linked Data
dbSNP Id:
rs971787139
gnomAD v2:
11-2170218-C-T
gnomAD v3:
11-2148988-C-T
gnomAD v4:
11-2148988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2148988C>T , CM000673.2:g.2148988C>T | GRCh38 |
| NC_000011.9:g.2170218C>T , CM000673.1:g.2170218C>T | GRCh37 |
| NC_000011.8:g.2126794C>T | NCBI36 |
| NG_008849.1:g.5616G>A | |
| NG_050578.1:g.17222G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481781.3:c.-249+138G>A (IGF2) | ENSP00000511998.1:n.-249+138G>A | |
| ENST00000643349.2:c.254+138G>A | ENSP00000495715.1:n.254+138G>A | |
| ENST00000695541.1:c.-249+138G>A (IGF2) | ENSP00000511997.1:n.-249+138G>A | |
| ENST00000481781.2:n.345+138G>A | ||
| ENST00000643349.1:c.254+138G>A | ENSP00000495715.1:n.254+138G>A | |
| ENST00000356578.8:c.407+138G>A (INS-IGF2) | ENSP00000348986.4:n.407+138G>A | |
| ENST00000397270.1:c.407+138G>A (INS-IGF2) | ENSP00000380440.1:n.407+138G>A | |
| ENST00000476874.1:n.428G>A (INS-IGF2) | ||
| ENST00000481781.1:n.612+138G>A (INS-IGF2) | ||
| NM_001007139.5:c.-249+138G>A (IGF2) | NP_001007140.2:n.-249+138G>A | |
| NM_001042376.2:c.407+138G>A (INS-IGF2) | NP_001035835.1:n.407+138G>A | |
| NR_003512.3:n.466+138G>A (INS-IGF2) | ||
| NM_001042376.3:c.407+138G>A (INS-IGF2) | NP_001035835.1:n.407+138G>A | |
| NR_003512.4:n.466+138G>A (INS-IGF2) | ||
| NM_001007139.6:c.-249+138G>A (IGF2) | NP_001007140.2:n.-249+138G>A |