Canonical Allele Identifier: CA913102446
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430209_181430210insGCGGCGGCAACTCCACC (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712430_181712446dup , CM000665.2:g.181712430_181712446dup GRCh38
NC_000003.11:g.181430218_181430234dup , CM000665.1:g.181430218_181430234dup GRCh37
NC_000003.10:g.182912912_182912928dup NCBI36
NG_009080.1:g.5497_5513dup , LRG_719:g.5497_5513dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.70_86dup (SOX2) MANE Select ENSP00000323588.1:p.Ala30ThrfsTer22
ENST00000325404.2:c.70_86dup (SOX2) ENSP00000323588.1:p.Ala30ThrfsTer22
NM_003106.3:c.70_86dup (SOX2) NP_003097.1:p.Ala30ThrfsTer22
NR_004053.3:n.768-2755_768-2739dup (SOX2-OT)
NR_075089.1:n.767+12547_767+12563dup (SOX2-OT)
NR_075090.1:n.482-27139_482-27123dup (SOX2-OT)
NR_075091.1:n.783-2755_783-2739dup (SOX2-OT)
NR_075092.1:n.782+12547_782+12563dup (SOX2-OT)
NR_075093.1:n.473-27139_473-27123dup (SOX2-OT)
NM_003106.4:c.70_86dup (SOX2) MANE Select NP_003097.1:p.Ala30ThrfsTer22
Search 100 bp 5'
Search 100 bp 3'