Canonical Allele Identifier: CA1424778922
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712417_181712419delinsGGG , CM000665.2:g.181712417_181712419delinsGGG GRCh38
NC_000003.11:g.181430205_181430207delinsGGG , CM000665.1:g.181430205_181430207delinsGGG GRCh37
NC_000003.10:g.182912899_182912901delinsGGG NCBI36
NG_009080.1:g.5484_5486delinsGGG , LRG_719:g.5484_5486delinsGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.57_59delinsGGG (SOX2) MANE Select ENSP00000323588.1:p.Gly19=
ENST00000325404.2:c.57_59delinsGGG (SOX2) ENSP00000323588.1:p.Gly19=
NM_003106.3:c.57_59delinsGGG (SOX2) NP_003097.1:p.Gly19=
NR_004053.3:n.768-2768_768-2766delinsGGG (SOX2-OT)
NR_075089.1:n.767+12534_767+12536delinsGGG (SOX2-OT)
NR_075090.1:n.482-27152_482-27150delinsGGG (SOX2-OT)
NR_075091.1:n.783-2768_783-2766delinsGGG (SOX2-OT)
NR_075092.1:n.782+12534_782+12536delinsGGG (SOX2-OT)
NR_075093.1:n.473-27152_473-27150delinsGGG (SOX2-OT)
NM_003106.4:c.57_59delinsGGG (SOX2) MANE Select NP_003097.1:p.Gly19=
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Search 100 bp 3'