Canonical Allele Identifier: CA1424780548
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713486_181713491delinsAACACC , CM000665.2:g.181713486_181713491delinsAACACC GRCh38
NC_000003.11:g.181431274_181431279delinsAACACC , CM000665.1:g.181431274_181431279delinsAACACC GRCh37
NC_000003.10:g.182913968_182913973delinsAACACC NCBI36
NG_009080.1:g.6553_6558delinsAACACC , LRG_719:g.6553_6558delinsAACACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*172_*177delinsAACACC (SOX2) MANE Select ENSP00000323588.1:n.*172_*177delinsAACACC
ENST00000325404.2:c.*172_*177delinsAACACC (SOX2) ENSP00000323588.1:n.*172_*177delinsAACACC
NM_003106.3:c.*172_*177delinsAACACC (SOX2) NP_003097.1:n.*172_*177delinsAACACC
NR_004053.3:n.768-1699_768-1694delinsAACACC (SOX2-OT)
NR_075089.1:n.767+13603_767+13608delinsAACACC (SOX2-OT)
NR_075090.1:n.482-26083_482-26078delinsAACACC (SOX2-OT)
NR_075091.1:n.783-1699_783-1694delinsAACACC (SOX2-OT)
NR_075092.1:n.782+13603_782+13608delinsAACACC (SOX2-OT)
NR_075093.1:n.473-26083_473-26078delinsAACACC (SOX2-OT)
NM_003106.4:c.*172_*177delinsAACACC (SOX2) MANE Select NP_003097.1:n.*172_*177delinsAACACC