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.
Linked Data
ClinVar Variation Id:
204191
ClinVar RCV Id:
RCV000186398
dbSNP Id:
rs180177241
ExAC:
2:241812442 AC / A
gnomAD v2:
2-241812442-AC-A
gnomAD v4:
2-240873025-AC-A
COSMIC:
COSM4660450
MyVariant Identifiers:
chr2:g.241812448del (hg19)
chr2:g.241812443del (hg19)
chr2:g.240873031del (hg38)
chr2:g.240873026del (hg38)
PubMed:
PMID:25629080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873031del , CM000664.2:g.240873031del | GRCh38 |
| NC_000002.11:g.241812448del , CM000664.1:g.241812448del | GRCh37 |
| NC_000002.10:g.241461121del | NCBI36 |
| NG_008005.1:g.9287del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.577del MANE Select | ENSP00000302620.3:p.Leu193PhefsTer19 | |
| ENST00000307503.3:c.577del | ENSP00000302620.3:p.Leu193PhefsTer19 | |
| ENST00000472436.1:n.597del | ||
| ENST00000476698.1:n.314del | ||
| NM_000030.2:c.577del | NP_000021.1:p.Leu193PhefsTer19 | |
| NM_000030.3:c.577del MANE Select | NP_000021.1:p.Leu193PhefsTer19 |