Linked Data
ClinVar Variation Id:
204491
ClinVar RCV Id:
RCV000186560
dbSNP Id:
rs869320620
PubMed:
PMID:26154720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2135501G>T , CM000673.2:g.2135501G>T | GRCh38 |
| NC_000011.9:g.2156731G>T , CM000673.1:g.2156731G>T | GRCh37 |
| NC_000011.8:g.2113307G>T | NCBI36 |
| NG_008849.1:g.19103C>A | |
| NG_050578.1:g.30709C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.23C>A (IGF2) | ENSP00000511998.1:p.Ser8Ter | |
| ENST00000643349.2:c.*75C>A | ENSP00000495715.1:n.*75C>A | |
| ENST00000695541.1:c.23C>A (IGF2) | ENSP00000511997.1:p.Ser8Ter | |
| ENST00000416167.7:c.23C>A (IGF2) MANE Select | ENSP00000414497.2:p.Ser8Ter | |
| ENST00000643349.1:c.*75C>A | ENSP00000495715.1:n.*75C>A | |
| ENST00000356578.8:c.*75C>A (INS-IGF2) | ENSP00000348986.4:n.*75C>A | |
| ENST00000381389.5:c.23C>A (IGF2) | ENSP00000370796.1:p.Ser8Ter | |
| ENST00000381392.5:c.23C>A (IGF2) | ENSP00000370799.1:p.Ser8Ter | |
| ENST00000381395.5:c.23C>A (IGF2) | ENSP00000370802.1:p.Ser8Ter | |
| ENST00000381406.8:c.23C>A (IGF2) | ENSP00000370813.4:p.Ser8Ter | |
| ENST00000416167.6:c.23C>A (IGF2) | ENSP00000414497.2:p.Ser8Ter | |
| ENST00000418738.2:c.23C>A (IGF2) | ENSP00000402047.2:p.Ser8Ter | |
| ENST00000434045.6:c.191C>A (IGF2) | ENSP00000391826.2:p.Ser64Ter | |
| NM_000612.5:c.23C>A (IGF2) | NP_000603.1:p.Ser8Ter | |
| NM_001007139.5:c.23C>A (IGF2) | NP_001007140.2:p.Ser8Ter | |
| NM_001127598.2:c.191C>A (IGF2) | NP_001121070.1:p.Ser64Ter | |
| NM_001291861.2:c.23C>A (IGF2) | NP_001278790.1:p.Ser8Ter | |
| NM_001291862.2:c.23C>A (IGF2) | NP_001278791.1:p.Ser8Ter | |
| NR_003512.3:n.737C>A (INS-IGF2) | ||
| NM_000612.6:c.23C>A (IGF2) MANE Select | NP_000603.1:p.Ser8Ter | |
| NM_001127598.3:c.191C>A (IGF2) | NP_001121070.1:p.Ser64Ter | |
| NM_001291861.3:c.23C>A (IGF2) | NP_001278790.1:p.Ser8Ter | |
| NM_001291862.3:c.23C>A (IGF2) | NP_001278791.1:p.Ser8Ter | |
| NR_003512.4:n.737C>A (INS-IGF2) | ||
| NM_001007139.6:c.23C>A (IGF2) | NP_001007140.2:p.Ser8Ter |