Linked Data
dbSNP Id:
rs1159673383
gnomAD v2:
11-2167600-G-GGC
gnomAD v3:
11-2146370-G-GGC
gnomAD v4:
11-2146370-G-GGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146373_2146374dup , CM000673.2:g.2146373_2146374dup | GRCh38 |
| NC_000011.9:g.2167603_2167604dup , CM000673.1:g.2167603_2167604dup | GRCh37 |
| NC_000011.8:g.2124179_2124180dup | NCBI36 |
| NG_008849.1:g.8232_8233dup | |
| NG_050578.1:g.19838_19839dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1194_-7+1195dup (IGF2) | ENSP00000511998.1:n.-7+1194_-7+1195dup | |
| ENST00000643349.2:c.*46+1194_*46+1195dup | ENSP00000495715.1:n.*46+1194_*46+1195dup | |
| ENST00000695541.1:c.-7+1194_-7+1195dup (IGF2) | ENSP00000511997.1:n.-7+1194_-7+1195dup | |
| ENST00000643349.1:c.*46+1194_*46+1195dup | ENSP00000495715.1:n.*46+1194_*46+1195dup | |
| ENST00000356578.8:c.*46+1194_*46+1195dup (INS-IGF2) | ENSP00000348986.4:n.*46+1194_*46+1195dup | |
| NM_001007139.5:c.-7+1194_-7+1195dup (IGF2) | NP_001007140.2:n.-7+1194_-7+1195dup | |
| NR_003512.3:n.708+1194_708+1195dup (INS-IGF2) | ||
| NR_028043.2:n.565_566dup (IGF2-AS) | ||
| NR_133657.1:n.454_455dup (IGF2-AS) | ||
| NR_003512.4:n.708+1194_708+1195dup (INS-IGF2) | ||
| NM_001007139.6:c.-7+1194_-7+1195dup (IGF2) | NP_001007140.2:n.-7+1194_-7+1195dup |