Linked Data
dbSNP Id:
rs781055305
ExAC:
11:2170382 C / T
gnomAD v2:
11-2170382-C-T
gnomAD v3:
11-2149152-C-T
gnomAD v4:
11-2149152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2149152C>T , CM000673.2:g.2149152C>T | GRCh38 |
| NC_000011.9:g.2170382C>T , CM000673.1:g.2170382C>T | GRCh37 |
| NC_000011.8:g.2126958C>T | NCBI36 |
| NG_008849.1:g.5452G>A | |
| NG_050578.1:g.17058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-275G>A (IGF2) | ENSP00000511998.1:n.-275G>A | |
| ENST00000643349.2:c.228G>A | ENSP00000495715.1:p.Ala76= | |
| ENST00000695541.1:c.-275G>A (IGF2) | ENSP00000511997.1:n.-275G>A | |
| ENST00000481781.2:n.319G>A | ||
| ENST00000643349.1:c.228G>A | ENSP00000495715.1:p.Ala76= | |
| ENST00000356578.8:c.381G>A (INS-IGF2) | ENSP00000348986.4:p.Ala127= | |
| ENST00000397270.1:c.381G>A (INS-IGF2) | ENSP00000380440.1:p.Ala127= | |
| ENST00000476874.1:n.264G>A (INS-IGF2) | ||
| ENST00000481781.1:n.586G>A (INS-IGF2) | ||
| NM_001007139.5:c.-275G>A (IGF2) | NP_001007140.2:n.-275G>A | |
| NM_001042376.2:c.381G>A (INS-IGF2) | NP_001035835.1:p.Ala127= | |
| NR_003512.3:n.440G>A (INS-IGF2) | ||
| NM_001042376.3:c.381G>A (INS-IGF2) | NP_001035835.1:p.Ala127= | |
| NR_003512.4:n.440G>A (INS-IGF2) | ||
| NM_001007139.6:c.-275G>A (IGF2) | NP_001007140.2:n.-275G>A |