Canonical Allele Identifier: CA2695199335

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 2630457
• ClinVar RCV Id: RCV004550639

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712638dup , CM000665.2:g.181712638dup	GRCh38
NC_000003.11:g.181430426dup , CM000665.1:g.181430426dup	GRCh37
NC_000003.10:g.182913120dup	NCBI36
NG_009080.1:g.5705dup , LRG_719:g.5705dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.278dup (SOX2) MANE Select	ENSP00000323588.1:p.Ala94GlyfsTer2
ENST00000325404.2:c.278dup (SOX2)	ENSP00000323588.1:p.Ala94GlyfsTer2
NM_003106.3:c.278dup (SOX2)	NP_003097.1:p.Ala94GlyfsTer2
NR_004053.3:n.768-2547dup (SOX2-OT)
NR_075089.1:n.767+12755dup (SOX2-OT)
NR_075090.1:n.482-26931dup (SOX2-OT)
NR_075091.1:n.783-2547dup (SOX2-OT)
NR_075092.1:n.782+12755dup (SOX2-OT)
NR_075093.1:n.473-26931dup (SOX2-OT)
NM_003106.4:c.278dup (SOX2) MANE Select	NP_003097.1:p.Ala94GlyfsTer2