Canonical Allele Identifier: CA1424779291

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712679_181712695delinsGATTATAAATACCGGCC , CM000665.2:g.181712679_181712695delinsGATTATAAATACCGGCC	GRCh38
NC_000003.11:g.181430467_181430483delinsGATTATAAATACCGGCC , CM000665.1:g.181430467_181430483delinsGATTATAAATACCGGCC	GRCh37
NC_000003.10:g.182913161_182913177delinsGATTATAAATACCGGCC	NCBI36
NG_009080.1:g.5746_5762delinsGATTATAAATACCGGCC , LRG_719:g.5746_5762delinsGATTATAAATACCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.319_335delinsGATTATAAATACCGGCC (SOX2) MANE Select	ENSP00000323588.1:p.Asp107=
ENST00000325404.2:c.319_335delinsGATTATAAATACCGGCC (SOX2)	ENSP00000323588.1:p.Asp107=
NM_003106.3:c.319_335delinsGATTATAAATACCGGCC (SOX2)	NP_003097.1:p.Asp107=
NR_004053.3:n.768-2506_768-2490delinsGATTATAAATACCGGCC (SOX2-OT)
NR_075089.1:n.767+12796_767+12812delinsGATTATAAATACCGGCC (SOX2-OT)
NR_075090.1:n.482-26890_482-26874delinsGATTATAAATACCGGCC (SOX2-OT)
NR_075091.1:n.783-2506_783-2490delinsGATTATAAATACCGGCC (SOX2-OT)
NR_075092.1:n.782+12796_782+12812delinsGATTATAAATACCGGCC (SOX2-OT)
NR_075093.1:n.473-26890_473-26874delinsGATTATAAATACCGGCC (SOX2-OT)
NM_003106.4:c.319_335delinsGATTATAAATACCGGCC (SOX2) MANE Select	NP_003097.1:p.Asp107=