Canonical Allele Identifier: CA355474655
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 2515667
dbSNP Id: rs1383014223

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713150C>A , CM000665.2:g.181713150C>A GRCh38
NC_000003.11:g.181430938C>A , CM000665.1:g.181430938C>A GRCh37
NC_000003.10:g.182913632C>A NCBI36
NG_009080.1:g.6217C>A , LRG_719:g.6217C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.790C>A (SOX2) MANE Select ENSP00000323588.1:p.Pro264Thr
ENST00000325404.2:c.790C>A (SOX2) ENSP00000323588.1:p.Pro264Thr
NM_003106.3:c.790C>A (SOX2) NP_003097.1:p.Pro264Thr
NR_004053.3:n.768-2035C>A (SOX2-OT)
NR_075089.1:n.767+13267C>A (SOX2-OT)
NR_075090.1:n.482-26419C>A (SOX2-OT)
NR_075091.1:n.783-2035C>A (SOX2-OT)
NR_075092.1:n.782+13267C>A (SOX2-OT)
NR_075093.1:n.473-26419C>A (SOX2-OT)
NM_003106.4:c.790C>A (SOX2) MANE Select NP_003097.1:p.Pro264Thr