Canonical Allele Identifier: CA355473069
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs749464287
MyVariant Identifiers: chr3:g.181430224A>C (hg19) chr3:g.181712436A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712436A>C , CM000665.2:g.181712436A>C GRCh38
NC_000003.11:g.181430224A>C , CM000665.1:g.181430224A>C GRCh37
NC_000003.10:g.182912918A>C NCBI36
NG_009080.1:g.5503A>C , LRG_719:g.5503A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.76A>C (SOX2) MANE Select ENSP00000323588.1:p.Thr26Pro
ENST00000325404.2:c.76A>C (SOX2) ENSP00000323588.1:p.Thr26Pro
NM_003106.3:c.76A>C (SOX2) NP_003097.1:p.Thr26Pro
NR_004053.3:n.768-2749A>C (SOX2-OT)
NR_075089.1:n.767+12553A>C (SOX2-OT)
NR_075090.1:n.482-27133A>C (SOX2-OT)
NR_075091.1:n.783-2749A>C (SOX2-OT)
NR_075092.1:n.782+12553A>C (SOX2-OT)
NR_075093.1:n.473-27133A>C (SOX2-OT)
NM_003106.4:c.76A>C (SOX2) MANE Select NP_003097.1:p.Thr26Pro
Search 100 bp 5'
Search 100 bp 3'