Canonical Allele Identifier: CA2566819474
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712644_181712645insCAACTCCTTTGCTT , CM000665.2:g.181712644_181712645insCAACTCCTTTGCTT GRCh38
NC_000003.11:g.181430432_181430433insCAACTCCTTTGCTT , CM000665.1:g.181430432_181430433insCAACTCCTTTGCTT GRCh37
NC_000003.10:g.182913126_182913127insCAACTCCTTTGCTT NCBI36
NG_009080.1:g.5711_5712insCAACTCCTTTGCTT , LRG_719:g.5711_5712insCAACTCCTTTGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.284_285insCAACTCCTTTGCTT (SOX2) MANE Select ENSP00000323588.1:p.Lys95AsnfsTer13
ENST00000325404.2:c.284_285insCAACTCCTTTGCTT (SOX2) ENSP00000323588.1:p.Lys95AsnfsTer13
NM_003106.3:c.284_285insCAACTCCTTTGCTT (SOX2) NP_003097.1:p.Lys95AsnfsTer13
NR_004053.3:n.768-2541_768-2540insCAACTCCTTTGCTT (SOX2-OT)
NR_075089.1:n.767+12761_767+12762insCAACTCCTTTGCTT (SOX2-OT)
NR_075090.1:n.482-26925_482-26924insCAACTCCTTTGCTT (SOX2-OT)
NR_075091.1:n.783-2541_783-2540insCAACTCCTTTGCTT (SOX2-OT)
NR_075092.1:n.782+12761_782+12762insCAACTCCTTTGCTT (SOX2-OT)
NR_075093.1:n.473-26925_473-26924insCAACTCCTTTGCTT (SOX2-OT)
NM_003106.4:c.284_285insCAACTCCTTTGCTT (SOX2) MANE Select NP_003097.1:p.Lys95AsnfsTer13
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