Canonical Allele Identifier: CA2759648136
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713464del , CM000665.2:g.181713464del GRCh38
NC_000003.11:g.181431252del , CM000665.1:g.181431252del GRCh37
NC_000003.10:g.182913946del NCBI36
NG_009080.1:g.6531del , LRG_719:g.6531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*150del (SOX2) MANE Select ENSP00000323588.1:n.*150del
ENST00000325404.2:c.*150del (SOX2) ENSP00000323588.1:n.*150del
NM_003106.3:c.*150del (SOX2) NP_003097.1:n.*150del
NR_004053.3:n.768-1721del (SOX2-OT)
NR_075089.1:n.767+13581del (SOX2-OT)
NR_075090.1:n.482-26105del (SOX2-OT)
NR_075091.1:n.783-1721del (SOX2-OT)
NR_075092.1:n.782+13581del (SOX2-OT)
NR_075093.1:n.473-26105del (SOX2-OT)
NM_003106.4:c.*150del (SOX2) MANE Select NP_003097.1:n.*150del