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: CA658657350

Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 467821

ClinVar RCV Id: RCV000536949

dbSNP Id: rs1553862958

MyVariant Identifiers: chr3:g.181430305dup (hg19) chr3:g.181712517dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712517dup , CM000665.2:g.181712517dup	GRCh38
NC_000003.11:g.181430305dup , CM000665.1:g.181430305dup	GRCh37
NC_000003.10:g.182912999dup	NCBI36
NG_009080.1:g.5584dup , LRG_719:g.5584dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.157dup (SOX2) MANE Select	ENSP00000323588.1:p.Arg53ProfsTer?
ENST00000325404.2:c.157dup (SOX2)	ENSP00000323588.1:p.Arg53ProfsTer?
NM_003106.3:c.157dup (SOX2)	NP_003097.1:p.Arg53ProfsTer?
NR_004053.3:n.768-2668dup (SOX2-OT)
NR_075089.1:n.767+12634dup (SOX2-OT)
NR_075090.1:n.482-27052dup (SOX2-OT)
NR_075091.1:n.783-2668dup (SOX2-OT)
NR_075092.1:n.782+12634dup (SOX2-OT)
NR_075093.1:n.473-27052dup (SOX2-OT)
NM_003106.4:c.157dup (SOX2) MANE Select	NP_003097.1:p.Arg53ProfsTer?