Canonical Allele Identifier: CA355474653
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108523459

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713148C>T , CM000665.2:g.181713148C>T GRCh38
NC_000003.11:g.181430936C>T , CM000665.1:g.181430936C>T GRCh37
NC_000003.10:g.182913630C>T NCBI36
NG_009080.1:g.6215C>T , LRG_719:g.6215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.788C>T (SOX2) MANE Select ENSP00000323588.1:p.Ala263Val
ENST00000325404.2:c.788C>T (SOX2) ENSP00000323588.1:p.Ala263Val
NM_003106.3:c.788C>T (SOX2) NP_003097.1:p.Ala263Val
NR_004053.3:n.768-2037C>T (SOX2-OT)
NR_075089.1:n.767+13265C>T (SOX2-OT)
NR_075090.1:n.482-26421C>T (SOX2-OT)
NR_075091.1:n.783-2037C>T (SOX2-OT)
NR_075092.1:n.782+13265C>T (SOX2-OT)
NR_075093.1:n.473-26421C>T (SOX2-OT)
NM_003106.4:c.788C>T (SOX2) MANE Select NP_003097.1:p.Ala263Val