Canonical Allele Identifier: CA1424778676
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712336_181712392delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC , CM000665.2:g.181712336_181712392delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC GRCh38
NC_000003.11:g.181430124_181430180delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC , CM000665.1:g.181430124_181430180delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC GRCh37
NC_000003.10:g.182912818_182912874delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC NCBI36
NG_009080.1:g.5403_5459delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC , LRG_719:g.5403_5459delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.-25_32delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2)
ENST00000325404.2:c.-25_32delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2)
NM_003106.3:c.-25_32delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2)
NR_004053.3:n.768-2849_768-2793delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NR_075089.1:n.767+12453_767+12509delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NR_075090.1:n.482-27233_482-27177delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NR_075091.1:n.783-2849_783-2793delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NR_075092.1:n.782+12453_782+12509delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NR_075093.1:n.473-27233_473-27177delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2-OT)
NM_003106.4:c.-25_32delinsGGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC (SOX2)