Canonical Allele Identifier: CA2759648130
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713455del , CM000665.2:g.181713455del GRCh38
NC_000003.11:g.181431243del , CM000665.1:g.181431243del GRCh37
NC_000003.10:g.182913937del NCBI36
NG_009080.1:g.6522del , LRG_719:g.6522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*141del (SOX2) MANE Select ENSP00000323588.1:n.*141del
ENST00000325404.2:c.*141del (SOX2) ENSP00000323588.1:n.*141del
NM_003106.3:c.*141del (SOX2) NP_003097.1:n.*141del
NR_004053.3:n.768-1730del (SOX2-OT)
NR_075089.1:n.767+13572del (SOX2-OT)
NR_075090.1:n.482-26114del (SOX2-OT)
NR_075091.1:n.783-1730del (SOX2-OT)
NR_075092.1:n.782+13572del (SOX2-OT)
NR_075093.1:n.473-26114del (SOX2-OT)
NM_003106.4:c.*141del (SOX2) MANE Select NP_003097.1:n.*141del