Canonical Allele Identifier: CA355473774
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712746G>T , CM000665.2:g.181712746G>T GRCh38
NC_000003.11:g.181430534G>T , CM000665.1:g.181430534G>T GRCh37
NC_000003.10:g.182913228G>T NCBI36
NG_009080.1:g.5813G>T , LRG_719:g.5813G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.386G>T (SOX2) MANE Select ENSP00000323588.1:p.Gly129Val
ENST00000325404.2:c.386G>T (SOX2) ENSP00000323588.1:p.Gly129Val
NM_003106.3:c.386G>T (SOX2) NP_003097.1:p.Gly129Val
NR_004053.3:n.768-2439G>T (SOX2-OT)
NR_075089.1:n.767+12863G>T (SOX2-OT)
NR_075090.1:n.482-26823G>T (SOX2-OT)
NR_075091.1:n.783-2439G>T (SOX2-OT)
NR_075092.1:n.782+12863G>T (SOX2-OT)
NR_075093.1:n.473-26823G>T (SOX2-OT)
NM_003106.4:c.386G>T (SOX2) MANE Select NP_003097.1:p.Gly129Val