Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713523T= , CM000665.2:g.181713523T= | GRCh38 |
| NC_000003.11:g.181431311T= , CM000665.1:g.181431311T= | GRCh37 |
| NC_000003.10:g.182914005T= | NCBI36 |
| NG_009080.1:g.6590T= , LRG_719:g.6590T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.*209T= (SOX2) MANE Select | ENSP00000323588.1:n.*209T= | |
| ENST00000325404.2:c.*209T= (SOX2) | ENSP00000323588.1:n.*209T= | |
| NM_003106.3:c.*209T= (SOX2) | NP_003097.1:n.*209T= | |
| NR_004053.3:n.768-1662T= (SOX2-OT) | ||
| NR_075089.1:n.767+13640T= (SOX2-OT) | ||
| NR_075090.1:n.482-26046T= (SOX2-OT) | ||
| NR_075091.1:n.783-1662T= (SOX2-OT) | ||
| NR_075092.1:n.782+13640T= (SOX2-OT) | ||
| NR_075093.1:n.473-26046T= (SOX2-OT) | ||
| NM_003106.4:c.*209T= (SOX2) MANE Select | NP_003097.1:n.*209T= |