Canonical Allele Identifier: CA355474655

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 2515667
• ClinVar RCV Id: RCV003252305 ; RCV003514623
• dbSNP Id: rs1383014223
• gnomAD v2: 3-181430938-C-A
• gnomAD v4: 3-181713150-C-A
• MyVariant Identifiers: chr3:g.181430938C>A (hg19) ; chr3:g.181713150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713150C>A , CM000665.2:g.181713150C>A	GRCh38
NC_000003.11:g.181430938C>A , CM000665.1:g.181430938C>A	GRCh37
NC_000003.10:g.182913632C>A	NCBI36
NG_009080.1:g.6217C>A , LRG_719:g.6217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.790C>A (SOX2) MANE Select	ENSP00000323588.1:p.Pro264Thr
ENST00000325404.2:c.790C>A (SOX2)	ENSP00000323588.1:p.Pro264Thr
NM_003106.3:c.790C>A (SOX2)	NP_003097.1:p.Pro264Thr
NR_004053.3:n.768-2035C>A (SOX2-OT)
NR_075089.1:n.767+13267C>A (SOX2-OT)
NR_075090.1:n.482-26419C>A (SOX2-OT)
NR_075091.1:n.783-2035C>A (SOX2-OT)
NR_075092.1:n.782+13267C>A (SOX2-OT)
NR_075093.1:n.473-26419C>A (SOX2-OT)
NM_003106.4:c.790C>A (SOX2) MANE Select	NP_003097.1:p.Pro264Thr