Canonical Allele Identifier: CA1057046777

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714893309
• gnomAD v3: 3-181713478-CAAAAGAGA-C
• gnomAD v4: 3-181713478-CAAAAGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713480_181713487del , CM000665.2:g.181713480_181713487del	GRCh38
NC_000003.11:g.181431268_181431275del , CM000665.1:g.181431268_181431275del	GRCh37
NC_000003.10:g.182913962_182913969del	NCBI36
NG_009080.1:g.6547_6554del , LRG_719:g.6547_6554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*166_*173del (SOX2) MANE Select	ENSP00000323588.1:n.*166_*173del
ENST00000325404.2:c.*166_*173del (SOX2)	ENSP00000323588.1:n.*166_*173del
NM_003106.3:c.*166_*173del (SOX2)	NP_003097.1:n.*166_*173del
NR_004053.3:n.768-1705_768-1698del (SOX2-OT)
NR_075089.1:n.767+13597_767+13604del (SOX2-OT)
NR_075090.1:n.482-26089_482-26082del (SOX2-OT)
NR_075091.1:n.783-1705_783-1698del (SOX2-OT)
NR_075092.1:n.782+13597_782+13604del (SOX2-OT)
NR_075093.1:n.473-26089_473-26082del (SOX2-OT)
NM_003106.4:c.*166_*173del (SOX2) MANE Select	NP_003097.1:n.*166_*173del