Canonical Allele Identifier: CA256571
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 12821
ClinVar RCV Id: RCV000013669
dbSNP Id: rs104893805

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712581G>C , CM000665.2:g.181712581G>C GRCh38
NC_000003.11:g.181430369G>C , CM000665.1:g.181430369G>C GRCh37
NC_000003.10:g.182913063G>C NCBI36
NG_009080.1:g.5648G>C , LRG_719:g.5648G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.221G>C (SOX2) MANE Select ENSP00000323588.1:p.Arg74Pro
ENST00000325404.2:c.221G>C (SOX2) ENSP00000323588.1:p.Arg74Pro
NM_003106.3:c.221G>C (SOX2) NP_003097.1:p.Arg74Pro
NR_004053.3:n.768-2604G>C (SOX2-OT)
NR_075089.1:n.767+12698G>C (SOX2-OT)
NR_075090.1:n.482-26988G>C (SOX2-OT)
NR_075091.1:n.783-2604G>C (SOX2-OT)
NR_075092.1:n.782+12698G>C (SOX2-OT)
NR_075093.1:n.473-26988G>C (SOX2-OT)
NM_003106.4:c.221G>C (SOX2) MANE Select NP_003097.1:p.Arg74Pro