Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA355473187

Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 986763

ClinVar RCV Id: RCV001267854

dbSNP Id: rs1714842576

MyVariant Identifiers: chr3:g.181430279C>G (hg19) chr3:g.181712491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712491C>G , CM000665.2:g.181712491C>G	GRCh38
NC_000003.11:g.181430279C>G , CM000665.1:g.181430279C>G	GRCh37
NC_000003.10:g.182912973C>G	NCBI36
NG_009080.1:g.5558C>G , LRG_719:g.5558C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.131C>G (SOX2) MANE Select	ENSP00000323588.1:p.Pro44Arg
ENST00000325404.2:c.131C>G (SOX2)	ENSP00000323588.1:p.Pro44Arg
NM_003106.3:c.131C>G (SOX2)	NP_003097.1:p.Pro44Arg
NR_004053.3:n.768-2694C>G (SOX2-OT)
NR_075089.1:n.767+12608C>G (SOX2-OT)
NR_075090.1:n.482-27078C>G (SOX2-OT)
NR_075091.1:n.783-2694C>G (SOX2-OT)
NR_075092.1:n.782+12608C>G (SOX2-OT)
NR_075093.1:n.473-27078C>G (SOX2-OT)
NM_003106.4:c.131C>G (SOX2) MANE Select	NP_003097.1:p.Pro44Arg