Linked Data
dbSNP Id:
rs773565051
ExAC:
11:2167473 A / G
gnomAD v2:
11-2167473-A-G
gnomAD v4:
11-2146243-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146243A>G , CM000673.2:g.2146243A>G | GRCh38 |
| NC_000011.9:g.2167473A>G , CM000673.1:g.2167473A>G | GRCh37 |
| NC_000011.8:g.2124049A>G | NCBI36 |
| NG_008849.1:g.8361T>C | |
| NG_050578.1:g.19967T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481781.3:c.-7+1323T>C (IGF2) | ENSP00000511998.1:n.-7+1323T>C | |
| ENST00000643349.2:c.*46+1323T>C | ENSP00000495715.1:n.*46+1323T>C | |
| ENST00000695541.1:c.-7+1323T>C (IGF2) | ENSP00000511997.1:n.-7+1323T>C | |
| ENST00000643349.1:c.*46+1323T>C | ENSP00000495715.1:n.*46+1323T>C | |
| ENST00000356578.8:c.*46+1323T>C (INS-IGF2) | ENSP00000348986.4:n.*46+1323T>C | |
| NM_001007139.5:c.-7+1323T>C (IGF2) | NP_001007140.2:n.-7+1323T>C | |
| NR_003512.3:n.708+1323T>C (INS-IGF2) | ||
| NR_028043.2:n.437-2A>G (IGF2-AS) | ||
| NR_133657.1:n.437-113A>G (IGF2-AS) | ||
| NR_003512.4:n.708+1323T>C (INS-IGF2) | ||
| NM_001007139.6:c.-7+1323T>C (IGF2) | NP_001007140.2:n.-7+1323T>C |