Canonical Allele Identifier: CA2759648282

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713604_181713605insGGGGGGGG , CM000665.2:g.181713604_181713605insGGGGGGGG	GRCh38
NC_000003.11:g.181431392_181431393insGGGGGGGG , CM000665.1:g.181431392_181431393insGGGGGGGG	GRCh37
NC_000003.10:g.182914086_182914087insGGGGGGGG	NCBI36
NG_009080.1:g.6671_6672insGGGGGGGG , LRG_719:g.6671_6672insGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*290_*291insGGGGGGGG (SOX2) MANE Select	ENSP00000323588.1:n.*290_*291insGGGGGGGG
ENST00000325404.2:c.*290_*291insGGGGGGGG (SOX2)	ENSP00000323588.1:n.*290_*291insGGGGGGGG
NM_003106.3:c.*290_*291insGGGGGGGG (SOX2)	NP_003097.1:n.*290_*291insGGGGGGGG
NR_004053.3:n.768-1581_768-1580insGGGGGGGG (SOX2-OT)
NR_075089.1:n.767+13721_767+13722insGGGGGGGG (SOX2-OT)
NR_075090.1:n.482-25965_482-25964insGGGGGGGG (SOX2-OT)
NR_075091.1:n.783-1581_783-1580insGGGGGGGG (SOX2-OT)
NR_075092.1:n.782+13721_782+13722insGGGGGGGG (SOX2-OT)
NR_075093.1:n.473-25965_473-25964insGGGGGGGG (SOX2-OT)
NM_003106.4:c.*290_*291insGGGGGGGG (SOX2) MANE Select	NP_003097.1:n.*290_*291insGGGGGGGG