Canonical Allele Identifier: CA2704844879
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108522434

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712764dup , CM000665.2:g.181712764dup GRCh38
NC_000003.11:g.181430552dup , CM000665.1:g.181430552dup GRCh37
NC_000003.10:g.182913246dup NCBI36
NG_009080.1:g.5831dup , LRG_719:g.5831dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.404dup (SOX2) MANE Select ENSP00000323588.1:p.Gly136ArgfsTer3
ENST00000325404.2:c.404dup (SOX2) ENSP00000323588.1:p.Gly136ArgfsTer3
NM_003106.3:c.404dup (SOX2) NP_003097.1:p.Gly136ArgfsTer3
NR_004053.3:n.768-2421dup (SOX2-OT)
NR_075089.1:n.767+12881dup (SOX2-OT)
NR_075090.1:n.482-26805dup (SOX2-OT)
NR_075091.1:n.783-2421dup (SOX2-OT)
NR_075092.1:n.782+12881dup (SOX2-OT)
NR_075093.1:n.473-26805dup (SOX2-OT)
NM_003106.4:c.404dup (SOX2) MANE Select NP_003097.1:p.Gly136ArgfsTer3