Canonical Allele Identifier: CA221966
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 94104
ClinVar RCV Id: RCV000080064 RCV001067610 RCV002293417 RCV003894934
dbSNP Id: rs398123693
gnomAD v3: 3-181712418-GGCGGCGGCGGCAACTCCACC-G
gnomAD v4: 3-181712418-GGCGGCGGCGGCAACTCCACC-G
MyVariant Identifiers: chr3:g.181430218_181430237del (hg19) chr3:g.181430218_181430237delAACTCCACCGCGGCGGCGGC (hg19) chr3:g.181712430_181712449del (hg38)
PubMed: PMID:23891399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712430_181712449del , CM000665.2:g.181712430_181712449del GRCh38
NC_000003.11:g.181430218_181430237del , CM000665.1:g.181430218_181430237del GRCh37
NC_000003.10:g.182912912_182912931del NCBI36
NG_009080.1:g.5497_5516del , LRG_719:g.5497_5516del

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.70_89del (SOX2) MANE Select ENSP00000323588.1:p.Asn24ArgfsTer?
ENST00000325404.2:c.70_89del (SOX2) ENSP00000323588.1:p.Asn24ArgfsTer?
NM_003106.3:c.70_89del (SOX2) NP_003097.1:p.Asn24ArgfsTer?
NR_004053.3:n.768-2755_768-2736del (SOX2-OT)
NR_075089.1:n.767+12547_767+12566del (SOX2-OT)
NR_075090.1:n.482-27139_482-27120del (SOX2-OT)
NR_075091.1:n.783-2755_783-2736del (SOX2-OT)
NR_075092.1:n.782+12547_782+12566del (SOX2-OT)
NR_075093.1:n.473-27139_473-27120del (SOX2-OT)
NM_003106.4:c.70_89del (SOX2) MANE Select NP_003097.1:p.Asn24ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'