Canonical Allele Identifier: CA1424780436
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713345_181713346delinsAT , CM000665.2:g.181713345_181713346delinsAT GRCh38
NC_000003.11:g.181431133_181431134delinsAT , CM000665.1:g.181431133_181431134delinsAT GRCh37
NC_000003.10:g.182913827_182913828delinsAT NCBI36
NG_009080.1:g.6412_6413delinsAT , LRG_719:g.6412_6413delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*31_*32delinsAT (SOX2) MANE Select ENSP00000323588.1:n.*31_*32delinsAT
ENST00000325404.2:c.*31_*32delinsAT (SOX2) ENSP00000323588.1:n.*31_*32delinsAT
NM_003106.3:c.*31_*32delinsAT (SOX2) NP_003097.1:n.*31_*32delinsAT
NR_004053.3:n.768-1840_768-1839delinsAT (SOX2-OT)
NR_075089.1:n.767+13462_767+13463delinsAT (SOX2-OT)
NR_075090.1:n.482-26224_482-26223delinsAT (SOX2-OT)
NR_075091.1:n.783-1840_783-1839delinsAT (SOX2-OT)
NR_075092.1:n.782+13462_782+13463delinsAT (SOX2-OT)
NR_075093.1:n.473-26224_473-26223delinsAT (SOX2-OT)
NM_003106.4:c.*31_*32delinsAT (SOX2) MANE Select NP_003097.1:n.*31_*32delinsAT