Canonical Allele Identifier: CA2556093180

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712647_181712648insC , CM000665.2:g.181712647_181712648insC	GRCh38
NC_000003.11:g.181430435_181430436insC , CM000665.1:g.181430435_181430436insC	GRCh37
NC_000003.10:g.182913129_182913130insC	NCBI36
NG_009080.1:g.5714_5715insC , LRG_719:g.5714_5715insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.287_288insC (SOX2) MANE Select	ENSP00000323588.1:p.Leu97AlafsTer13
ENST00000325404.2:c.287_288insC (SOX2)	ENSP00000323588.1:p.Leu97AlafsTer13
NM_003106.3:c.287_288insC (SOX2)	NP_003097.1:p.Leu97AlafsTer13
NR_004053.3:n.768-2538_768-2537insC (SOX2-OT)
NR_075089.1:n.767+12764_767+12765insC (SOX2-OT)
NR_075090.1:n.482-26922_482-26921insC (SOX2-OT)
NR_075091.1:n.783-2538_783-2537insC (SOX2-OT)
NR_075092.1:n.782+12764_782+12765insC (SOX2-OT)
NR_075093.1:n.473-26922_473-26921insC (SOX2-OT)
NM_003106.4:c.287_288insC (SOX2) MANE Select	NP_003097.1:p.Leu97AlafsTer13