Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713188G>C , CM000665.2:g.181713188G>C | GRCh38 |
| NC_000003.11:g.181430976G>C , CM000665.1:g.181430976G>C | GRCh37 |
| NC_000003.10:g.182913670G>C | NCBI36 |
| NG_009080.1:g.6255G>C , LRG_719:g.6255G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.828G>C (SOX2) MANE Select | ENSP00000323588.1:p.Met276Ile | |
| ENST00000325404.2:c.828G>C (SOX2) | ENSP00000323588.1:p.Met276Ile | |
| NM_003106.3:c.828G>C (SOX2) | NP_003097.1:p.Met276Ile | |
| NR_004053.3:n.768-1997G>C (SOX2-OT) | ||
| NR_075089.1:n.767+13305G>C (SOX2-OT) | ||
| NR_075090.1:n.482-26381G>C (SOX2-OT) | ||
| NR_075091.1:n.783-1997G>C (SOX2-OT) | ||
| NR_075092.1:n.782+13305G>C (SOX2-OT) | ||
| NR_075093.1:n.473-26381G>C (SOX2-OT) | ||
| NM_003106.4:c.828G>C (SOX2) MANE Select | NP_003097.1:p.Met276Ile |