Linked Data
dbSNP Id:
rs757216254
ExAC:
3:181430874 G / C
gnomAD v2:
3-181430874-G-C
gnomAD v4:
3-181713086-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713086G>C , CM000665.2:g.181713086G>C | GRCh38 |
| NC_000003.11:g.181430874G>C , CM000665.1:g.181430874G>C | GRCh37 |
| NC_000003.10:g.182913568G>C | NCBI36 |
| NG_009080.1:g.6153G>C , LRG_719:g.6153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.726G>C (SOX2) MANE Select | ENSP00000323588.1:p.Ser242= | |
| ENST00000325404.2:c.726G>C (SOX2) | ENSP00000323588.1:p.Ser242= | |
| NM_003106.3:c.726G>C (SOX2) | NP_003097.1:p.Ser242= | |
| NR_004053.3:n.768-2099G>C (SOX2-OT) | ||
| NR_075089.1:n.767+13203G>C (SOX2-OT) | ||
| NR_075090.1:n.482-26483G>C (SOX2-OT) | ||
| NR_075091.1:n.783-2099G>C (SOX2-OT) | ||
| NR_075092.1:n.782+13203G>C (SOX2-OT) | ||
| NR_075093.1:n.473-26483G>C (SOX2-OT) | ||
| NM_003106.4:c.726G>C (SOX2) MANE Select | NP_003097.1:p.Ser242= |