Canonical Allele Identifier: CA2717265

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 535837
• ClinVar RCV Id: RCV000644036
• dbSNP Id: rs377110178
• ExAC: 3:181430545 G / A
• gnomAD v2: 3-181430545-G-A
• gnomAD v3: 3-181712757-G-A
• gnomAD v4: 3-181712757-G-A
• MyVariant Identifiers: chr3:g.181430545G>A (hg19) ; chr3:g.181712757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712757G>A , CM000665.2:g.181712757G>A	GRCh38
NC_000003.11:g.181430545G>A , CM000665.1:g.181430545G>A	GRCh37
NC_000003.10:g.182913239G>A	NCBI36
NG_009080.1:g.5824G>A , LRG_719:g.5824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.397G>A (SOX2) MANE Select	ENSP00000323588.1:p.Ala133Thr
ENST00000325404.2:c.397G>A (SOX2)	ENSP00000323588.1:p.Ala133Thr
NM_003106.3:c.397G>A (SOX2)	NP_003097.1:p.Ala133Thr
NR_004053.3:n.768-2428G>A (SOX2-OT)
NR_075089.1:n.767+12874G>A (SOX2-OT)
NR_075090.1:n.482-26812G>A (SOX2-OT)
NR_075091.1:n.783-2428G>A (SOX2-OT)
NR_075092.1:n.782+12874G>A (SOX2-OT)
NR_075093.1:n.473-26812G>A (SOX2-OT)
NM_003106.4:c.397G>A (SOX2) MANE Select	NP_003097.1:p.Ala133Thr