Canonical Allele Identifier: CA1057046832

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v3: 3-181713567-T-TG
• gnomAD v4: 3-181713567-T-TG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*258dup (SOX2) MANE Select	ENSP00000323588.1:n.*258dup
ENST00000325404.2:c.*258dup (SOX2)	ENSP00000323588.1:n.*258dup
NM_003106.3:c.*258dup (SOX2)	NP_003097.1:n.*258dup
NR_004053.3:n.768-1613dup (SOX2-OT)
NR_075089.1:n.767+13689dup (SOX2-OT)
NR_075090.1:n.482-25997dup (SOX2-OT)
NR_075091.1:n.783-1613dup (SOX2-OT)
NR_075092.1:n.782+13689dup (SOX2-OT)
NR_075093.1:n.473-25997dup (SOX2-OT)
NM_003106.4:c.*258dup (SOX2) MANE Select	NP_003097.1:n.*258dup