Canonical Allele Identifier: CA10605895

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 287854
• ClinVar RCV Id: RCV000289466
• dbSNP Id: rs886043747
• MyVariant Identifiers: chr3:g.181430468_181430483delinsTATTTATAAT (hg19) ; chr3:g.181712680_181712695delinsTATTTATAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712680_181712695delinsTATTTATAAT , CM000665.2:g.181712680_181712695delinsTATTTATAAT	GRCh38
NC_000003.11:g.181430468_181430483delinsTATTTATAAT , CM000665.1:g.181430468_181430483delinsTATTTATAAT	GRCh37
NC_000003.10:g.182913162_182913177delinsTATTTATAAT	NCBI36
NG_009080.1:g.5747_5762delinsTATTTATAAT , LRG_719:g.5747_5762delinsTATTTATAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.320_335delinsTATTTATAAT (SOX2) MANE Select	ENSP00000323588.1:p.Asp107_Pro112delinsValPheIleIle
ENST00000325404.2:c.320_335delinsTATTTATAAT (SOX2)	ENSP00000323588.1:p.Asp107_Pro112delinsValPheIleIle
NM_003106.3:c.320_335delinsTATTTATAAT (SOX2)	NP_003097.1:p.Asp107_Pro112delinsValPheIleIle
NR_004053.3:n.768-2505_768-2490delinsTATTTATAAT (SOX2-OT)
NR_075089.1:n.767+12797_767+12812delinsTATTTATAAT (SOX2-OT)
NR_075090.1:n.482-26889_482-26874delinsTATTTATAAT (SOX2-OT)
NR_075091.1:n.783-2505_783-2490delinsTATTTATAAT (SOX2-OT)
NR_075092.1:n.782+12797_782+12812delinsTATTTATAAT (SOX2-OT)
NR_075093.1:n.473-26889_473-26874delinsTATTTATAAT (SOX2-OT)
NM_003106.4:c.320_335delinsTATTTATAAT (SOX2) MANE Select	NP_003097.1:p.Asp107_Pro112delinsValPheIleIle