Linked Data
dbSNP Id:
rs2108523280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713091T>C , CM000665.2:g.181713091T>C | GRCh38 |
| NC_000003.11:g.181430879T>C , CM000665.1:g.181430879T>C | GRCh37 |
| NC_000003.10:g.182913573T>C | NCBI36 |
| NG_009080.1:g.6158T>C , LRG_719:g.6158T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.731T>C (SOX2) MANE Select | ENSP00000323588.1:p.Val244Ala | |
| ENST00000325404.2:c.731T>C (SOX2) | ENSP00000323588.1:p.Val244Ala | |
| NM_003106.3:c.731T>C (SOX2) | NP_003097.1:p.Val244Ala | |
| NR_004053.3:n.768-2094T>C (SOX2-OT) | ||
| NR_075089.1:n.767+13208T>C (SOX2-OT) | ||
| NR_075090.1:n.482-26478T>C (SOX2-OT) | ||
| NR_075091.1:n.783-2094T>C (SOX2-OT) | ||
| NR_075092.1:n.782+13208T>C (SOX2-OT) | ||
| NR_075093.1:n.473-26478T>C (SOX2-OT) | ||
| NM_003106.4:c.731T>C (SOX2) MANE Select | NP_003097.1:p.Val244Ala |