Canonical Allele Identifier: CA2580069107

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 1992360
• ClinVar RCV Id: RCV002814358

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712430_181712449dup , CM000665.2:g.181712430_181712449dup	GRCh38
NC_000003.11:g.181430218_181430237dup , CM000665.1:g.181430218_181430237dup	GRCh37
NC_000003.10:g.182912912_182912931dup	NCBI36
NG_009080.1:g.5497_5516dup , LRG_719:g.5497_5516dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.70_89dup (SOX2) MANE Select	ENSP00000323588.1:p.Gly31ThrfsTer22
ENST00000325404.2:c.70_89dup (SOX2)	ENSP00000323588.1:p.Gly31ThrfsTer22
NM_003106.3:c.70_89dup (SOX2)	NP_003097.1:p.Gly31ThrfsTer22
NR_004053.3:n.768-2755_768-2736dup (SOX2-OT)
NR_075089.1:n.767+12547_767+12566dup (SOX2-OT)
NR_075090.1:n.482-27139_482-27120dup (SOX2-OT)
NR_075091.1:n.783-2755_783-2736dup (SOX2-OT)
NR_075092.1:n.782+12547_782+12566dup (SOX2-OT)
NR_075093.1:n.473-27139_473-27120dup (SOX2-OT)
NM_003106.4:c.70_89dup (SOX2) MANE Select	NP_003097.1:p.Gly31ThrfsTer22