Canonical Allele Identifier: CA1424780355
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 986779
ClinVar RCV Id: RCV001267870
dbSNP Id: rs1714883683
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713303_181713304del , CM000665.2:g.181713303_181713304del GRCh38
NC_000003.11:g.181431091_181431092del , CM000665.1:g.181431091_181431092del GRCh37
NC_000003.10:g.182913785_182913786del NCBI36
NG_009080.1:g.6370_6371del , LRG_719:g.6370_6371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.943_944del (SOX2) MANE Select ENSP00000323588.1:p.Ser315ThrfsTer?
ENST00000325404.2:c.943_944del (SOX2) ENSP00000323588.1:p.Ser315ThrfsTer?
NM_003106.3:c.943_944del (SOX2) NP_003097.1:p.Ser315ThrfsTer?
NR_004053.3:n.768-1882_768-1881del (SOX2-OT)
NR_075089.1:n.767+13420_767+13421del (SOX2-OT)
NR_075090.1:n.482-26266_482-26265del (SOX2-OT)
NR_075091.1:n.783-1882_783-1881del (SOX2-OT)
NR_075092.1:n.782+13420_782+13421del (SOX2-OT)
NR_075093.1:n.473-26266_473-26265del (SOX2-OT)
NM_003106.4:c.943_944del (SOX2) MANE Select NP_003097.1:p.Ser315ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'