Linked Data
ClinVar Variation Id:
1302955
ClinVar RCV Id:
RCV001756454
dbSNP Id:
rs1034815541
gnomAD v3:
3-181713117-C-G
gnomAD v4:
3-181713117-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713117C>G , CM000665.2:g.181713117C>G | GRCh38 |
| NC_000003.11:g.181430905C>G , CM000665.1:g.181430905C>G | GRCh37 |
| NC_000003.10:g.182913599C>G | NCBI36 |
| NG_009080.1:g.6184C>G , LRG_719:g.6184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.757C>G (SOX2) MANE Select | ENSP00000323588.1:p.Pro253Ala | |
| ENST00000325404.2:c.757C>G (SOX2) | ENSP00000323588.1:p.Pro253Ala | |
| NM_003106.3:c.757C>G (SOX2) | NP_003097.1:p.Pro253Ala | |
| NR_004053.3:n.768-2068C>G (SOX2-OT) | ||
| NR_075089.1:n.767+13234C>G (SOX2-OT) | ||
| NR_075090.1:n.482-26452C>G (SOX2-OT) | ||
| NR_075091.1:n.783-2068C>G (SOX2-OT) | ||
| NR_075092.1:n.782+13234C>G (SOX2-OT) | ||
| NR_075093.1:n.473-26452C>G (SOX2-OT) | ||
| NM_003106.4:c.757C>G (SOX2) MANE Select | NP_003097.1:p.Pro253Ala |