Canonical Allele Identifier: CA2586973223
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713300del , CM000665.2:g.181713300del GRCh38
NC_000003.11:g.181431088del , CM000665.1:g.181431088del GRCh37
NC_000003.10:g.182913782del NCBI36
NG_009080.1:g.6367del , LRG_719:g.6367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.940del (SOX2) MANE Select ENSP00000323588.1:p.Leu314SerfsTer?
ENST00000325404.2:c.940del (SOX2) ENSP00000323588.1:p.Leu314SerfsTer?
NM_003106.3:c.940del (SOX2) NP_003097.1:p.Leu314SerfsTer?
NR_004053.3:n.768-1885del (SOX2-OT)
NR_075089.1:n.767+13417del (SOX2-OT)
NR_075090.1:n.482-26269del (SOX2-OT)
NR_075091.1:n.783-1885del (SOX2-OT)
NR_075092.1:n.782+13417del (SOX2-OT)
NR_075093.1:n.473-26269del (SOX2-OT)
NM_003106.4:c.940del (SOX2) MANE Select NP_003097.1:p.Leu314SerfsTer?