Canonical Allele Identifier: CA256562
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 12817
ClinVar RCV Id: RCV000013665
dbSNP Id: rs104893802
MyVariant Identifiers: chr3:g.181430438T>C (hg19) chr3:g.181712650T>C (hg38)
PubMed: PMID:15812812 PMID:18385377
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712650T>C , CM000665.2:g.181712650T>C GRCh38
NC_000003.11:g.181430438T>C , CM000665.1:g.181430438T>C GRCh37
NC_000003.10:g.182913132T>C NCBI36
NG_009080.1:g.5717T>C , LRG_719:g.5717T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.290T>C (SOX2) MANE Select ENSP00000323588.1:p.Leu97Pro
ENST00000325404.2:c.290T>C (SOX2) ENSP00000323588.1:p.Leu97Pro
NM_003106.3:c.290T>C (SOX2) NP_003097.1:p.Leu97Pro
NR_004053.3:n.768-2535T>C (SOX2-OT)
NR_075089.1:n.767+12767T>C (SOX2-OT)
NR_075090.1:n.482-26919T>C (SOX2-OT)
NR_075091.1:n.783-2535T>C (SOX2-OT)
NR_075092.1:n.782+12767T>C (SOX2-OT)
NR_075093.1:n.473-26919T>C (SOX2-OT)
NM_003106.4:c.290T>C (SOX2) MANE Select NP_003097.1:p.Leu97Pro
Search 100 bp 5'
Search 100 bp 3'