Canonical Allele Identifier: CA2586973210
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712645dup , CM000665.2:g.181712645dup GRCh38
NC_000003.11:g.181430433dup , CM000665.1:g.181430433dup GRCh37
NC_000003.10:g.182913127dup NCBI36
NG_009080.1:g.5712dup , LRG_719:g.5712dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.285dup (SOX2) MANE Select ENSP00000323588.1:p.Arg96AlafsTer14
ENST00000325404.2:c.285dup (SOX2) ENSP00000323588.1:p.Arg96AlafsTer14
NM_003106.3:c.285dup (SOX2) NP_003097.1:p.Arg96AlafsTer14
NR_004053.3:n.768-2540dup (SOX2-OT)
NR_075089.1:n.767+12762dup (SOX2-OT)
NR_075090.1:n.482-26924dup (SOX2-OT)
NR_075091.1:n.783-2540dup (SOX2-OT)
NR_075092.1:n.782+12762dup (SOX2-OT)
NR_075093.1:n.473-26924dup (SOX2-OT)
NM_003106.4:c.285dup (SOX2) MANE Select NP_003097.1:p.Arg96AlafsTer14
Search 100 bp 5'
Search 100 bp 3'