Canonical Allele Identifier: CA2704754438
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs1400331402

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713340del , CM000665.2:g.181713340del GRCh38
NC_000003.11:g.181431128del , CM000665.1:g.181431128del GRCh37
NC_000003.10:g.182913822del NCBI36
NG_009080.1:g.6407del , LRG_719:g.6407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*26del (SOX2) MANE Select ENSP00000323588.1:n.*26del
ENST00000325404.2:c.*26del (SOX2) ENSP00000323588.1:n.*26del
NM_003106.3:c.*26del (SOX2) NP_003097.1:n.*26del
NR_004053.3:n.768-1845del (SOX2-OT)
NR_075089.1:n.767+13457del (SOX2-OT)
NR_075090.1:n.482-26229del (SOX2-OT)
NR_075091.1:n.783-1845del (SOX2-OT)
NR_075092.1:n.782+13457del (SOX2-OT)
NR_075093.1:n.473-26229del (SOX2-OT)
NM_003106.4:c.*26del (SOX2) MANE Select NP_003097.1:n.*26del