Canonical Allele Identifier: CA2668691914
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181713783-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713787dup , CM000665.2:g.181713787dup GRCh38
NC_000003.11:g.181431575dup , CM000665.1:g.181431575dup GRCh37
NC_000003.10:g.182914269dup NCBI36
NG_009080.1:g.6854dup , LRG_719:g.6854dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*473dup (SOX2) MANE Select ENSP00000323588.1:n.*473dup
ENST00000325404.2:c.*473dup (SOX2) ENSP00000323588.1:n.*473dup
NM_003106.3:c.*473dup (SOX2) NP_003097.1:n.*473dup
NR_004053.3:n.768-1398dup (SOX2-OT)
NR_075089.1:n.767+13904dup (SOX2-OT)
NR_075090.1:n.482-25782dup (SOX2-OT)
NR_075091.1:n.783-1398dup (SOX2-OT)
NR_075092.1:n.782+13904dup (SOX2-OT)
NR_075093.1:n.473-25782dup (SOX2-OT)
NM_003106.4:c.*473dup (SOX2) MANE Select NP_003097.1:n.*473dup
Search 100 bp 5'
Search 100 bp 3'