Linked Data
ClinVar Variation Id:
2156459
ClinVar RCV Id:
RCV003084142
dbSNP Id:
rs778665464
ExAC:
3:181430890 G / T
gnomAD v2:
3-181430890-G-T
gnomAD v3:
3-181713102-G-T
gnomAD v4:
3-181713102-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713102G>T , CM000665.2:g.181713102G>T | GRCh38 |
| NC_000003.11:g.181430890G>T , CM000665.1:g.181430890G>T | GRCh37 |
| NC_000003.10:g.182913584G>T | NCBI36 |
| NG_009080.1:g.6169G>T , LRG_719:g.6169G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.742G>T (SOX2) MANE Select | ENSP00000323588.1:p.Ala248Ser | |
| ENST00000325404.2:c.742G>T (SOX2) | ENSP00000323588.1:p.Ala248Ser | |
| NM_003106.3:c.742G>T (SOX2) | NP_003097.1:p.Ala248Ser | |
| NR_004053.3:n.768-2083G>T (SOX2-OT) | ||
| NR_075089.1:n.767+13219G>T (SOX2-OT) | ||
| NR_075090.1:n.482-26467G>T (SOX2-OT) | ||
| NR_075091.1:n.783-2083G>T (SOX2-OT) | ||
| NR_075092.1:n.782+13219G>T (SOX2-OT) | ||
| NR_075093.1:n.473-26467G>T (SOX2-OT) | ||
| NM_003106.4:c.742G>T (SOX2) MANE Select | NP_003097.1:p.Ala248Ser |