Canonical Allele Identifier: CA1139658378
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 986771
ClinVar RCV Id: RCV001267862
dbSNP Id: rs1714883776
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713301del , CM000665.2:g.181713301del GRCh38
NC_000003.11:g.181431089del , CM000665.1:g.181431089del GRCh37
NC_000003.10:g.182913783del NCBI36
NG_009080.1:g.6368del , LRG_719:g.6368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.941del (SOX2) MANE Select ENSP00000323588.1:p.Leu314ProfsTer?
ENST00000325404.2:c.941del (SOX2) ENSP00000323588.1:p.Leu314ProfsTer?
NM_003106.3:c.941del (SOX2) NP_003097.1:p.Leu314ProfsTer?
NR_004053.3:n.768-1884del (SOX2-OT)
NR_075089.1:n.767+13418del (SOX2-OT)
NR_075090.1:n.482-26268del (SOX2-OT)
NR_075091.1:n.783-1884del (SOX2-OT)
NR_075092.1:n.782+13418del (SOX2-OT)
NR_075093.1:n.473-26268del (SOX2-OT)
NM_003106.4:c.941del (SOX2) MANE Select NP_003097.1:p.Leu314ProfsTer?
Search 100 bp 5'
Search 100 bp 3'