Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712608C>T , CM000665.2:g.181712608C>T | GRCh38 |
| NC_000003.11:g.181430396C>T , CM000665.1:g.181430396C>T | GRCh37 |
| NC_000003.10:g.182913090C>T | NCBI36 |
| NG_009080.1:g.5675C>T , LRG_719:g.5675C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003106.4:c.248C>T (SOX2) MANE Select | NP_003097.1:p.Ser83Leu |
| ENST00000325404.3:c.248C>T (SOX2) MANE Select | ENSP00000323588.1:p.Ser83Leu |
| NM_003106.3:c.248C>T (SOX2) | NP_003097.1:p.Ser83Leu |
| NR_004053.3:n.768-2577C>T (SOX2-OT) | |
| NR_075089.1:n.767+12725C>T (SOX2-OT) | |
| NR_075090.1:n.482-26961C>T (SOX2-OT) | |
| NR_075091.1:n.783-2577C>T (SOX2-OT) | |
| NR_075092.1:n.782+12725C>T (SOX2-OT) | |
| NR_075093.1:n.473-26961C>T (SOX2-OT) | |
| ENST00000325404.2:c.248C>T (SOX2) | ENSP00000323588.1:p.Ser83Leu |