Canonical Allele Identifier: CA903520652

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1262784253
• gnomAD v3: 3-181713596-TG-T
• gnomAD v4: 3-181713596-TG-T
• MyVariant Identifiers: chr3:g.181431385del (hg19) ; chr3:g.181713597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713600del , CM000665.2:g.181713600del	GRCh38
NC_000003.11:g.181431388del , CM000665.1:g.181431388del	GRCh37
NC_000003.10:g.182914082del	NCBI36
NG_009080.1:g.6667del , LRG_719:g.6667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*286del (SOX2) MANE Select	ENSP00000323588.1:n.*286del
ENST00000325404.2:c.*286del (SOX2)	ENSP00000323588.1:n.*286del
NM_003106.3:c.*286del (SOX2)	NP_003097.1:n.*286del
NR_004053.3:n.768-1585del (SOX2-OT)
NR_075089.1:n.767+13717del (SOX2-OT)
NR_075090.1:n.482-25969del (SOX2-OT)
NR_075091.1:n.783-1585del (SOX2-OT)
NR_075092.1:n.782+13717del (SOX2-OT)
NR_075093.1:n.473-25969del (SOX2-OT)
NM_003106.4:c.*286del (SOX2) MANE Select	NP_003097.1:n.*286del