Canonical Allele Identifier: CA2668691488

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713436-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713437_181713438del , CM000665.2:g.181713437_181713438del	GRCh38
NC_000003.11:g.181431225_181431226del , CM000665.1:g.181431225_181431226del	GRCh37
NC_000003.10:g.182913919_182913920del	NCBI36
NG_009080.1:g.6504_6505del , LRG_719:g.6504_6505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*123_*124del (SOX2) MANE Select	ENSP00000323588.1:n.*123_*124del
ENST00000325404.2:c.*123_*124del (SOX2)	ENSP00000323588.1:n.*123_*124del
NM_003106.3:c.*123_*124del (SOX2)	NP_003097.1:n.*123_*124del
NR_004053.3:n.768-1748_768-1747del (SOX2-OT)
NR_075089.1:n.767+13554_767+13555del (SOX2-OT)
NR_075090.1:n.482-26132_482-26131del (SOX2-OT)
NR_075091.1:n.783-1748_783-1747del (SOX2-OT)
NR_075092.1:n.782+13554_782+13555del (SOX2-OT)
NR_075093.1:n.473-26132_473-26131del (SOX2-OT)
NM_003106.4:c.*123_*124del (SOX2) MANE Select	NP_003097.1:n.*123_*124del