Canonical Allele Identifier: CA2668691495

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713438-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713447_181713449dup , CM000665.2:g.181713447_181713449dup	GRCh38
NC_000003.11:g.181431235_181431237dup , CM000665.1:g.181431235_181431237dup	GRCh37
NC_000003.10:g.182913929_182913931dup	NCBI36
NG_009080.1:g.6514_6516dup , LRG_719:g.6514_6516dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*133_*135dup (SOX2) MANE Select	ENSP00000323588.1:n.*133_*135dup
ENST00000325404.2:c.*133_*135dup (SOX2)	ENSP00000323588.1:n.*133_*135dup
NM_003106.3:c.*133_*135dup (SOX2)	NP_003097.1:n.*133_*135dup
NR_004053.3:n.768-1738_768-1736dup (SOX2-OT)
NR_075089.1:n.767+13564_767+13566dup (SOX2-OT)
NR_075090.1:n.482-26122_482-26120dup (SOX2-OT)
NR_075091.1:n.783-1738_783-1736dup (SOX2-OT)
NR_075092.1:n.782+13564_782+13566dup (SOX2-OT)
NR_075093.1:n.473-26122_473-26120dup (SOX2-OT)
NM_003106.4:c.*133_*135dup (SOX2) MANE Select	NP_003097.1:n.*133_*135dup