Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712530del , CM000665.2:g.181712530del | GRCh38 |
| NC_000003.11:g.181430318del , CM000665.1:g.181430318del | GRCh37 |
| NC_000003.10:g.182913012del | NCBI36 |
| NG_009080.1:g.5597del , LRG_719:g.5597del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.170del (SOX2) MANE Select | ENSP00000323588.1:p.Arg57ProfsTer? | |
| ENST00000325404.2:c.170del (SOX2) | ENSP00000323588.1:p.Arg57ProfsTer? | |
| NM_003106.3:c.170del (SOX2) | NP_003097.1:p.Arg57ProfsTer? | |
| NR_004053.3:n.768-2655del (SOX2-OT) | ||
| NR_075089.1:n.767+12647del (SOX2-OT) | ||
| NR_075090.1:n.482-27039del (SOX2-OT) | ||
| NR_075091.1:n.783-2655del (SOX2-OT) | ||
| NR_075092.1:n.782+12647del (SOX2-OT) | ||
| NR_075093.1:n.473-27039del (SOX2-OT) | ||
| NM_003106.4:c.170del (SOX2) MANE Select | NP_003097.1:p.Arg57ProfsTer? |