Canonical Allele Identifier: CA2545026272
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712819_181712820insCTC , CM000665.2:g.181712819_181712820insCTC GRCh38
NC_000003.11:g.181430607_181430608insCTC , CM000665.1:g.181430607_181430608insCTC GRCh37
NC_000003.10:g.182913301_182913302insCTC NCBI36
NG_009080.1:g.5886_5887insCTC , LRG_719:g.5886_5887insCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.459_460insCTC (SOX2) MANE Select ENSP00000323588.1:p.Val153_Asn154insLeu
ENST00000325404.2:c.459_460insCTC (SOX2) ENSP00000323588.1:p.Val153_Asn154insLeu
NM_003106.3:c.459_460insCTC (SOX2) NP_003097.1:p.Val153_Asn154insLeu
NR_004053.3:n.768-2366_768-2365insCTC (SOX2-OT)
NR_075089.1:n.767+12936_767+12937insCTC (SOX2-OT)
NR_075090.1:n.482-26750_482-26749insCTC (SOX2-OT)
NR_075091.1:n.783-2366_783-2365insCTC (SOX2-OT)
NR_075092.1:n.782+12936_782+12937insCTC (SOX2-OT)
NR_075093.1:n.473-26750_473-26749insCTC (SOX2-OT)
NM_003106.4:c.459_460insCTC (SOX2) MANE Select NP_003097.1:p.Val153_Asn154insLeu