Canonical Allele Identifier: CA355473411

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 1683930
• ClinVar RCV Id: RCV002244452
• dbSNP Id: rs2108521859
• MyVariant Identifiers: chr3:g.181430375G>A (hg19) ; chr3:g.181712587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712587G>A , CM000665.2:g.181712587G>A	GRCh38
NC_000003.11:g.181430375G>A , CM000665.1:g.181430375G>A	GRCh37
NC_000003.10:g.182913069G>A	NCBI36
NG_009080.1:g.5654G>A , LRG_719:g.5654G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.227G>A (SOX2) MANE Select	ENSP00000323588.1:p.Gly76Asp
ENST00000325404.2:c.227G>A (SOX2)	ENSP00000323588.1:p.Gly76Asp
NM_003106.3:c.227G>A (SOX2)	NP_003097.1:p.Gly76Asp
NR_004053.3:n.768-2598G>A (SOX2-OT)
NR_075089.1:n.767+12704G>A (SOX2-OT)
NR_075090.1:n.482-26982G>A (SOX2-OT)
NR_075091.1:n.783-2598G>A (SOX2-OT)
NR_075092.1:n.782+12704G>A (SOX2-OT)
NR_075093.1:n.473-26982G>A (SOX2-OT)
NM_003106.4:c.227G>A (SOX2) MANE Select	NP_003097.1:p.Gly76Asp