Canonical Allele Identifier: CA122731

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 12826
• ClinVar RCV Id: RCV002513019
• dbSNP Id: rs104893808
• ExAC: 3:181430719 G / A
• gnomAD v2: 3-181430719-G-A
• gnomAD v3: 3-181712931-G-A
• gnomAD v4: 3-181712931-G-A
• MyVariant Identifiers: chr3:g.181430719G>A (hg19) ; chr3:g.181712931G>A (hg38)
• PubMed: PMID:15578584 ; PMID:15812812 ; PMID:16145681 ; PMID:16932809 ; PMID:17219395 ; PMID:19921648 ; PMID:20803647 ; PMID:27427475

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712931G>A , CM000665.2:g.181712931G>A	GRCh38
NC_000003.11:g.181430719G>A , CM000665.1:g.181430719G>A	GRCh37
NC_000003.10:g.182913413G>A	NCBI36
NG_009080.1:g.5998G>A , LRG_719:g.5998G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.571G>A (SOX2) MANE Select	ENSP00000323588.1:p.Ala191Thr
ENST00000325404.2:c.571G>A (SOX2)	ENSP00000323588.1:p.Ala191Thr
NM_003106.3:c.571G>A (SOX2)	NP_003097.1:p.Ala191Thr
NR_004053.3:n.768-2254G>A (SOX2-OT)
NR_075089.1:n.767+13048G>A (SOX2-OT)
NR_075090.1:n.482-26638G>A (SOX2-OT)
NR_075091.1:n.783-2254G>A (SOX2-OT)
NR_075092.1:n.782+13048G>A (SOX2-OT)
NR_075093.1:n.473-26638G>A (SOX2-OT)
NM_003106.4:c.571G>A (SOX2) MANE Select	NP_003097.1:p.Ala191Thr