Canonical Allele Identifier: CA89241925

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs780691019
• gnomAD v4: 3-181713537-CTT-C
• MyVariant Identifiers: chr3:g.181431326_181431327del (hg19) ; chr3:g.181713538_181713539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713540_181713541del , CM000665.2:g.181713540_181713541del	GRCh38
NC_000003.11:g.181431328_181431329del , CM000665.1:g.181431328_181431329del	GRCh37
NC_000003.10:g.182914022_182914023del	NCBI36
NG_009080.1:g.6607_6608del , LRG_719:g.6607_6608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*226_*227del (SOX2) MANE Select	ENSP00000323588.1:n.*226_*227del
ENST00000325404.2:c.*226_*227del (SOX2)	ENSP00000323588.1:n.*226_*227del
NM_003106.3:c.*226_*227del (SOX2)	NP_003097.1:n.*226_*227del
NR_004053.3:n.768-1645_768-1644del (SOX2-OT)
NR_075089.1:n.767+13657_767+13658del (SOX2-OT)
NR_075090.1:n.482-26029_482-26028del (SOX2-OT)
NR_075091.1:n.783-1645_783-1644del (SOX2-OT)
NR_075092.1:n.782+13657_782+13658del (SOX2-OT)
NR_075093.1:n.473-26029_473-26028del (SOX2-OT)
NM_003106.4:c.*226_*227del (SOX2) MANE Select	NP_003097.1:n.*226_*227del