Canonical Allele Identifier: CA2668691927
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181713806-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713806T>G , CM000665.2:g.181713806T>G GRCh38
NC_000003.11:g.181431594T>G , CM000665.1:g.181431594T>G GRCh37
NC_000003.10:g.182914288T>G NCBI36
NG_009080.1:g.6873T>G , LRG_719:g.6873T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*492T>G (SOX2) MANE Select ENSP00000323588.1:n.*492T>G
ENST00000325404.2:c.*492T>G (SOX2) ENSP00000323588.1:n.*492T>G
NM_003106.3:c.*492T>G (SOX2) NP_003097.1:n.*492T>G
NR_004053.3:n.768-1379T>G (SOX2-OT)
NR_075089.1:n.767+13923T>G (SOX2-OT)
NR_075090.1:n.482-25763T>G (SOX2-OT)
NR_075091.1:n.783-1379T>G (SOX2-OT)
NR_075092.1:n.782+13923T>G (SOX2-OT)
NR_075093.1:n.473-25763T>G (SOX2-OT)
NM_003106.4:c.*492T>G (SOX2) MANE Select NP_003097.1:n.*492T>G
Search 100 bp 5'
Search 100 bp 3'