Linked Data
ClinVar Variation Id:
12828
ClinVar RCV Id:
RCV000013676
dbSNP Id:
rs587776776
PubMed:
PMID:19921648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712911del , CM000665.2:g.181712911del | GRCh38 |
| NC_000003.11:g.181430699del , CM000665.1:g.181430699del | GRCh37 |
| NC_000003.10:g.182913393del | NCBI36 |
| NG_009080.1:g.5978del , LRG_719:g.5978del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325404.3:c.551del (SOX2) MANE Select | ENSP00000323588.1:p.Pro184ArgfsTer19 | |
| ENST00000325404.2:c.551del (SOX2) | ENSP00000323588.1:p.Pro184ArgfsTer19 | |
| NM_003106.3:c.551del (SOX2) | NP_003097.1:p.Pro184ArgfsTer19 | |
| NR_004053.3:n.768-2274del (SOX2-OT) | ||
| NR_075089.1:n.767+13028del (SOX2-OT) | ||
| NR_075090.1:n.482-26658del (SOX2-OT) | ||
| NR_075091.1:n.783-2274del (SOX2-OT) | ||
| NR_075092.1:n.782+13028del (SOX2-OT) | ||
| NR_075093.1:n.473-26658del (SOX2-OT) | ||
| NM_003106.4:c.551del (SOX2) MANE Select | NP_003097.1:p.Pro184ArgfsTer19 |