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.

Canonical Allele Identifier: CA728763454

Gene: PTGS2 HGNC NCBI

Linked Data

dbSNP Id: rs1222892206

gnomAD v3: 1-186680609-A-G

gnomAD v4: 1-186680609-A-G

MyVariant Identifiers: chr1:g.186649741A>G (hg19) chr1:g.186680609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186680609A>G , CM000663.2:g.186680609A>G	GRCh38
NC_000001.10:g.186649741A>G , CM000663.1:g.186649741A>G	GRCh37
NC_000001.9:g.184916364A>G	NCBI36
NG_028206.2:g.4819T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000680451.1:c.-114+95T>C	ENSP00000506242.1:n.-114+95T>C

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