Canonical Allele Identifier: CA2668691635

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713572-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713572_181713573insGA , CM000665.2:g.181713572_181713573insGA	GRCh38
NC_000003.11:g.181431360_181431361insGA , CM000665.1:g.181431360_181431361insGA	GRCh37
NC_000003.10:g.182914054_182914055insGA	NCBI36
NG_009080.1:g.6639_6640insGA , LRG_719:g.6639_6640insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*258_*259insGA (SOX2) MANE Select	ENSP00000323588.1:n.*258_*259insGA
ENST00000325404.2:c.*258_*259insGA (SOX2)	ENSP00000323588.1:n.*258_*259insGA
NM_003106.3:c.*258_*259insGA (SOX2)	NP_003097.1:n.*258_*259insGA
NR_004053.3:n.768-1613_768-1612insGA (SOX2-OT)
NR_075089.1:n.767+13689_767+13690insGA (SOX2-OT)
NR_075090.1:n.482-25997_482-25996insGA (SOX2-OT)
NR_075091.1:n.783-1613_783-1612insGA (SOX2-OT)
NR_075092.1:n.782+13689_782+13690insGA (SOX2-OT)
NR_075093.1:n.473-25997_473-25996insGA (SOX2-OT)
NM_003106.4:c.*258_*259insGA (SOX2) MANE Select	NP_003097.1:n.*258_*259insGA