Linked Data
dbSNP Id:
rs1442714947
gnomAD v2:
3-181431307-G-A
gnomAD v3:
3-181713519-G-A
gnomAD v4:
3-181713519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713519G>A , CM000665.2:g.181713519G>A | GRCh38 |
| NC_000003.11:g.181431307G>A , CM000665.1:g.181431307G>A | GRCh37 |
| NC_000003.10:g.182914001G>A | NCBI36 |
| NG_009080.1:g.6586G>A , LRG_719:g.6586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.*205G>A (SOX2) MANE Select | ENSP00000323588.1:n.*205G>A | |
| ENST00000325404.2:c.*205G>A (SOX2) | ENSP00000323588.1:n.*205G>A | |
| NM_003106.3:c.*205G>A (SOX2) | NP_003097.1:n.*205G>A | |
| NR_004053.3:n.768-1666G>A (SOX2-OT) | ||
| NR_075089.1:n.767+13636G>A (SOX2-OT) | ||
| NR_075090.1:n.482-26050G>A (SOX2-OT) | ||
| NR_075091.1:n.783-1666G>A (SOX2-OT) | ||
| NR_075092.1:n.782+13636G>A (SOX2-OT) | ||
| NR_075093.1:n.473-26050G>A (SOX2-OT) | ||
| NM_003106.4:c.*205G>A (SOX2) MANE Select | NP_003097.1:n.*205G>A |