Canonical Allele Identifier: CA256559
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12816
ClinVar RCV Id: RCV000013664
dbSNP Id: rs104893801

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712608C>A , CM000665.2:g.181712608C>A GRCh38
NC_000003.11:g.181430396C>A , CM000665.1:g.181430396C>A GRCh37
NC_000003.10:g.182913090C>A NCBI36
NG_009080.1:g.5675C>A , LRG_719:g.5675C>A

Transcript Alleles

HGVS Amino-acid change
NM_003106.3:c.248C>A (SOX2) VV NP_003097.1:p.Ser83Ter
NR_004053.3:n.768-2577C>A (SOX2-OT)
NR_075089.1:n.767+12725C>A (SOX2-OT)
NR_075090.1:n.482-26961C>A (SOX2-OT)
NR_075091.1:n.783-2577C>A (SOX2-OT)
NR_075092.1:n.782+12725C>A (SOX2-OT)
NR_075093.1:n.473-26961C>A (SOX2-OT)
NM_003106.4:c.248C>A (SOX2) VV
ENST00000325404.2:c.248C>A ENSP00000323588.1:p.Ser83Ter