Linked Data
ClinVar Variation Id:
29890
ClinVar RCV Id:
RCV000022771
dbSNP Id:
rs398122803
MyVariant Identifiers:
chr3:g.181430206_181430207dupGG (hg19)
chr3:g.181712418_181712419dupGG (hg38)
PubMed:
PMID:19254784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712418_181712419dup , CM000665.2:g.181712418_181712419dup | GRCh38 |
| NC_000003.11:g.181430206_181430207dup , CM000665.1:g.181430206_181430207dup | GRCh37 |
| NC_000003.10:g.182912900_182912901dup | NCBI36 |
| NG_009080.1:g.5485_5486dup , LRG_719:g.5485_5486dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.58_59dup (SOX2) MANE Select | ENSP00000323588.1:p.Gly21AlafsTer26 | |
| ENST00000325404.2:c.58_59dup (SOX2) | ENSP00000323588.1:p.Gly21AlafsTer26 | |
| NM_003106.3:c.58_59dup (SOX2) | NP_003097.1:p.Gly21AlafsTer26 | |
| NR_004053.3:n.768-2767_768-2766dup (SOX2-OT) | ||
| NR_075089.1:n.767+12535_767+12536dup (SOX2-OT) | ||
| NR_075090.1:n.482-27151_482-27150dup (SOX2-OT) | ||
| NR_075091.1:n.783-2767_783-2766dup (SOX2-OT) | ||
| NR_075092.1:n.782+12535_782+12536dup (SOX2-OT) | ||
| NR_075093.1:n.473-27151_473-27150dup (SOX2-OT) | ||
| NM_003106.4:c.58_59dup (SOX2) MANE Select | NP_003097.1:p.Gly21AlafsTer26 |