Canonical Allele Identifier: CA2541843029
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712429_181712430insGGTGGC , CM000665.2:g.181712429_181712430insGGTGGC GRCh38
NC_000003.11:g.181430217_181430218insGGTGGC , CM000665.1:g.181430217_181430218insGGTGGC GRCh37
NC_000003.10:g.182912911_182912912insGGTGGC NCBI36
NG_009080.1:g.5496_5497insGGTGGC , LRG_719:g.5496_5497insGGTGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.69_70insGGTGGC (SOX2) MANE Select ENSP00000323588.1:p.Gly23_Asn24insGlyGly
ENST00000325404.2:c.69_70insGGTGGC (SOX2) ENSP00000323588.1:p.Gly23_Asn24insGlyGly
NM_003106.3:c.69_70insGGTGGC (SOX2) NP_003097.1:p.Gly23_Asn24insGlyGly
NR_004053.3:n.768-2756_768-2755insGGTGGC (SOX2-OT)
NR_075089.1:n.767+12546_767+12547insGGTGGC (SOX2-OT)
NR_075090.1:n.482-27140_482-27139insGGTGGC (SOX2-OT)
NR_075091.1:n.783-2756_783-2755insGGTGGC (SOX2-OT)
NR_075092.1:n.782+12546_782+12547insGGTGGC (SOX2-OT)
NR_075093.1:n.473-27140_473-27139insGGTGGC (SOX2-OT)
NM_003106.4:c.69_70insGGTGGC (SOX2) MANE Select NP_003097.1:p.Gly23_Asn24insGlyGly
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