Canonical Allele Identifier: CA2532252271
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712828_181712829insGGCGGCGAAG , CM000665.2:g.181712828_181712829insGGCGGCGAAG GRCh38
NC_000003.11:g.181430616_181430617insGGCGGCGAAG , CM000665.1:g.181430616_181430617insGGCGGCGAAG GRCh37
NC_000003.10:g.182913310_182913311insGGCGGCGAAG NCBI36
NG_009080.1:g.5895_5896insGGCGGCGAAG , LRG_719:g.5895_5896insGGCGGCGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.468_469insGGCGGCGAAG (SOX2) MANE Select ENSP00000323588.1:p.Met157GlyfsTer?
ENST00000325404.2:c.468_469insGGCGGCGAAG (SOX2) ENSP00000323588.1:p.Met157GlyfsTer?
NM_003106.3:c.468_469insGGCGGCGAAG (SOX2) NP_003097.1:p.Met157GlyfsTer?
NR_004053.3:n.768-2357_768-2356insGGCGGCGAAG (SOX2-OT)
NR_075089.1:n.767+12945_767+12946insGGCGGCGAAG (SOX2-OT)
NR_075090.1:n.482-26741_482-26740insGGCGGCGAAG (SOX2-OT)
NR_075091.1:n.783-2357_783-2356insGGCGGCGAAG (SOX2-OT)
NR_075092.1:n.782+12945_782+12946insGGCGGCGAAG (SOX2-OT)
NR_075093.1:n.473-26741_473-26740insGGCGGCGAAG (SOX2-OT)
NM_003106.4:c.468_469insGGCGGCGAAG (SOX2) MANE Select NP_003097.1:p.Met157GlyfsTer?