Canonical Allele Identifier: CA2530094136

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712652_181712653insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA , CM000665.2:g.181712652_181712653insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA	GRCh38
NC_000003.11:g.181430440_181430441insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA , CM000665.1:g.181430440_181430441insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA	GRCh37
NC_000003.10:g.182913134_182913135insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA	NCBI36
NG_009080.1:g.5719_5720insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA , LRG_719:g.5719_5720insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.292_293insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2) MANE Select	ENSP00000323588.1:p.Arg98ProfsTer11
ENST00000325404.2:c.292_293insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2)	ENSP00000323588.1:p.Arg98ProfsTer11
NM_003106.3:c.292_293insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2)	NP_003097.1:p.Arg98ProfsTer11
NR_004053.3:n.768-2533_768-2532insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NR_075089.1:n.767+12769_767+12770insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NR_075090.1:n.482-26917_482-26916insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NR_075091.1:n.783-2533_783-2532insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NR_075092.1:n.782+12769_782+12770insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NR_075093.1:n.473-26917_473-26916insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2-OT)
NM_003106.4:c.292_293insCCTCAAATTGGATATCAGTCCCGAAACCTTAGCGCAACGCATGGCGCAGTTA (SOX2) MANE Select	NP_003097.1:p.Arg98ProfsTer11