Canonical Allele Identifier: CA2573136740
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 1679309
ClinVar RCV Id: RCV002226906
dbSNP Id: rs2108523389
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713124_181713127dup , CM000665.2:g.181713124_181713127dup GRCh38
NC_000003.11:g.181430912_181430915dup , CM000665.1:g.181430912_181430915dup GRCh37
NC_000003.10:g.182913606_182913609dup NCBI36
NG_009080.1:g.6191_6194dup , LRG_719:g.6191_6194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.764_767dup (SOX2) MANE Select ENSP00000323588.1:p.Ser257TyrfsTer?
ENST00000325404.2:c.764_767dup (SOX2) ENSP00000323588.1:p.Ser257TyrfsTer?
NM_003106.3:c.764_767dup (SOX2) NP_003097.1:p.Ser257TyrfsTer?
NR_004053.3:n.768-2061_768-2058dup (SOX2-OT)
NR_075089.1:n.767+13241_767+13244dup (SOX2-OT)
NR_075090.1:n.482-26445_482-26442dup (SOX2-OT)
NR_075091.1:n.783-2061_783-2058dup (SOX2-OT)
NR_075092.1:n.782+13241_782+13244dup (SOX2-OT)
NR_075093.1:n.473-26445_473-26442dup (SOX2-OT)
NM_003106.4:c.764_767dup (SOX2) MANE Select NP_003097.1:p.Ser257TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'