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.
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:
CA539146351
Gene:
Linked Data
dbSNP Id:
rs1489632044
gnomAD v2:
2-204701571-T-TAC
gnomAD v3:
2-203836848-T-TAC
gnomAD v4:
2-203836848-T-TAC
MyVariant Identifiers:
chr2:g.204701571_204701572insAC (hg19)
chr2:g.203836848_203836849insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203836848_203836849insAC , CM000664.2:g.203836848_203836849insAC | GRCh38 |
| NC_000002.11:g.204701571_204701572insAC , CM000664.1:g.204701571_204701572insAC | GRCh37 |
| NC_000002.10:g.204409816_204409817insAC | NCBI36 |