Linked Data
dbSNP Id:
rs559391350
gnomAD v2:
11-2169917-T-A
gnomAD v3:
11-2148687-T-A
gnomAD v4:
11-2148687-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2148687T>A , CM000673.2:g.2148687T>A | GRCh38 |
| NC_000011.9:g.2169917T>A , CM000673.1:g.2169917T>A | GRCh37 |
| NC_000011.8:g.2126493T>A | NCBI36 |
| NG_008849.1:g.5917A>T | |
| NG_050578.1:g.17523A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-249+439A>T (IGF2) | ENSP00000511998.1:n.-249+439A>T | |
| ENST00000643349.2:c.254+439A>T | ENSP00000495715.1:n.254+439A>T | |
| ENST00000695541.1:c.-249+439A>T (IGF2) | ENSP00000511997.1:n.-249+439A>T | |
| ENST00000481781.2:n.345+439A>T | ||
| ENST00000643349.1:c.254+439A>T | ENSP00000495715.1:n.254+439A>T | |
| ENST00000356578.8:c.407+439A>T (INS-IGF2) | ENSP00000348986.4:n.407+439A>T | |
| ENST00000397270.1:c.407+439A>T (INS-IGF2) | ENSP00000380440.1:n.407+439A>T | |
| ENST00000481781.1:n.612+439A>T (INS-IGF2) | ||
| NM_001007139.5:c.-249+439A>T (IGF2) | NP_001007140.2:n.-249+439A>T | |
| NM_001042376.2:c.407+439A>T (INS-IGF2) | NP_001035835.1:n.407+439A>T | |
| NR_003512.3:n.466+439A>T (INS-IGF2) | ||
| NM_001042376.3:c.407+439A>T (INS-IGF2) | NP_001035835.1:n.407+439A>T | |
| NR_003512.4:n.466+439A>T (INS-IGF2) | ||
| NM_001007139.6:c.-249+439A>T (IGF2) | NP_001007140.2:n.-249+439A>T |