Linked Data
dbSNP Id:
rs758060325
ExAC:
11:2167508 G / A
gnomAD v2:
11-2167508-G-A
gnomAD v3:
11-2146278-G-A
gnomAD v4:
11-2146278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146278G>A , CM000673.2:g.2146278G>A | GRCh38 |
| NC_000011.9:g.2167508G>A , CM000673.1:g.2167508G>A | GRCh37 |
| NC_000011.8:g.2124084G>A | NCBI36 |
| NG_008849.1:g.8326C>T | |
| NG_050578.1:g.19932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1288C>T (IGF2) | ENSP00000511998.1:n.-7+1288C>T | |
| ENST00000643349.2:c.*46+1288C>T | ENSP00000495715.1:n.*46+1288C>T | |
| ENST00000695541.1:c.-7+1288C>T (IGF2) | ENSP00000511997.1:n.-7+1288C>T | |
| ENST00000643349.1:c.*46+1288C>T | ENSP00000495715.1:n.*46+1288C>T | |
| ENST00000356578.8:c.*46+1288C>T (INS-IGF2) | ENSP00000348986.4:n.*46+1288C>T | |
| NM_001007139.5:c.-7+1288C>T (IGF2) | NP_001007140.2:n.-7+1288C>T | |
| NR_003512.3:n.708+1288C>T (INS-IGF2) | ||
| NR_028043.2:n.470G>A (IGF2-AS) | ||
| NR_133657.1:n.437-78G>A (IGF2-AS) | ||
| NR_003512.4:n.708+1288C>T (INS-IGF2) | ||
| NM_001007139.6:c.-7+1288C>T (IGF2) | NP_001007140.2:n.-7+1288C>T |