Canonical Allele Identifier: CA2557350260
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712642_181712643insTCCATT , CM000665.2:g.181712642_181712643insTCCATT GRCh38
NC_000003.11:g.181430430_181430431insTCCATT , CM000665.1:g.181430430_181430431insTCCATT GRCh37
NC_000003.10:g.182913124_182913125insTCCATT NCBI36
NG_009080.1:g.5709_5710insTCCATT , LRG_719:g.5709_5710insTCCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.282_283insTCCATT (SOX2) MANE Select ENSP00000323588.1:p.Ala94_Lys95insSerIle
ENST00000325404.2:c.282_283insTCCATT (SOX2) ENSP00000323588.1:p.Ala94_Lys95insSerIle
NM_003106.3:c.282_283insTCCATT (SOX2) NP_003097.1:p.Ala94_Lys95insSerIle
NR_004053.3:n.768-2543_768-2542insTCCATT (SOX2-OT)
NR_075089.1:n.767+12759_767+12760insTCCATT (SOX2-OT)
NR_075090.1:n.482-26927_482-26926insTCCATT (SOX2-OT)
NR_075091.1:n.783-2543_783-2542insTCCATT (SOX2-OT)
NR_075092.1:n.782+12759_782+12760insTCCATT (SOX2-OT)
NR_075093.1:n.473-26927_473-26926insTCCATT (SOX2-OT)
NM_003106.4:c.282_283insTCCATT (SOX2) MANE Select NP_003097.1:p.Ala94_Lys95insSerIle