Canonical Allele Identifier: CA2704859076
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108524184

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713445_181713446insC , CM000665.2:g.181713445_181713446insC GRCh38
NC_000003.11:g.181431233_181431234insC , CM000665.1:g.181431233_181431234insC GRCh37
NC_000003.10:g.182913927_182913928insC NCBI36
NG_009080.1:g.6512_6513insC , LRG_719:g.6512_6513insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*131_*132insC (SOX2) MANE Select ENSP00000323588.1:n.*131_*132insC
ENST00000325404.2:c.*131_*132insC (SOX2) ENSP00000323588.1:n.*131_*132insC
NM_003106.3:c.*131_*132insC (SOX2) NP_003097.1:n.*131_*132insC
NR_004053.3:n.768-1740_768-1739insC (SOX2-OT)
NR_075089.1:n.767+13562_767+13563insC (SOX2-OT)
NR_075090.1:n.482-26124_482-26123insC (SOX2-OT)
NR_075091.1:n.783-1740_783-1739insC (SOX2-OT)
NR_075092.1:n.782+13562_782+13563insC (SOX2-OT)
NR_075093.1:n.473-26124_473-26123insC (SOX2-OT)
NM_003106.4:c.*131_*132insC (SOX2) MANE Select NP_003097.1:n.*131_*132insC