Canonical Allele Identifier: CA1424780822
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713710_181713712delinsCAA , CM000665.2:g.181713710_181713712delinsCAA GRCh38
NC_000003.11:g.181431498_181431500delinsCAA , CM000665.1:g.181431498_181431500delinsCAA GRCh37
NC_000003.10:g.182914192_182914194delinsCAA NCBI36
NG_009080.1:g.6777_6779delinsCAA , LRG_719:g.6777_6779delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*396_*398delinsCAA (SOX2) MANE Select ENSP00000323588.1:n.*396_*398delinsCAA
ENST00000325404.2:c.*396_*398delinsCAA (SOX2) ENSP00000323588.1:n.*396_*398delinsCAA
NM_003106.3:c.*396_*398delinsCAA (SOX2) NP_003097.1:n.*396_*398delinsCAA
NR_004053.3:n.768-1475_768-1473delinsCAA (SOX2-OT)
NR_075089.1:n.767+13827_767+13829delinsCAA (SOX2-OT)
NR_075090.1:n.482-25859_482-25857delinsCAA (SOX2-OT)
NR_075091.1:n.783-1475_783-1473delinsCAA (SOX2-OT)
NR_075092.1:n.782+13827_782+13829delinsCAA (SOX2-OT)
NR_075093.1:n.473-25859_473-25857delinsCAA (SOX2-OT)
NM_003106.4:c.*396_*398delinsCAA (SOX2) MANE Select NP_003097.1:n.*396_*398delinsCAA
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