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:
331263
ClinVar RCV Id:
RCV000345980
dbSNP Id:
rs886054883
gnomAD v2:
2-145144621-T-TAC
gnomAD v3:
2-144387054-T-TAC
gnomAD v4:
2-144387054-T-TAC
MyVariant Identifiers:
chr2:g.145144621_145144622insAC (hg19)
chr2:g.144387054_144387055insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144387055_144387056insCA , CM000664.2:g.144387055_144387056insCA | GRCh38 |
| NC_000002.11:g.145144622_145144623insCA , CM000664.1:g.145144622_145144623insCA | GRCh37 |
| NC_000002.10:g.144861092_144861093insCA | NCBI36 |
| NG_016431.1:g.138337_138338insGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627532.3:c.*2396_*2397insGT MANE Select | ENSP00000487174.1:n.*2396_*2397insGT | |
| ENST00000636179.1:n.6010_6011insGT | ||
| ENST00000636413.1:c.*2396_*2397insGT | ENSP00000490508.1:n.*2396_*2397insGT | |
| ENST00000636471.1:c.*2396_*2397insGT | ENSP00000490317.1:n.*2396_*2397insGT | |
| ENST00000636820.1:n.6141_6142insGT | ||
| ENST00000637045.1:c.*2396_*2397insGT | ENSP00000490141.1:n.*2396_*2397insGT | |
| ENST00000637304.1:c.*2396_*2397insGT | ENSP00000490872.1:n.*2396_*2397insGT | |
| ENST00000638007.1:c.*2396_*2397insGT | ENSP00000490723.1:n.*2396_*2397insGT | |
| ENST00000638087.1:c.*2396_*2397insGT | ENSP00000490673.1:n.*2396_*2397insGT | |
| ENST00000638128.1:c.*2396_*2397insGT | ENSP00000490934.1:n.*2396_*2397insGT | |
| ENST00000639389.1:c.151+9357_151+9358insGT | ENSP00000492572.1:n.151+9357_151+9358insG... | |
| ENST00000627532.2:c.*2396_*2397insGT | ENSP00000487174.1:n.*2396_*2397insGT | |
| NM_001171653.1:c.*2396_*2397insGT | NP_001165124.1:n.*2396_*2397insGT | |
| NM_014795.3:c.*2396_*2397insGT | NP_055610.1:n.*2396_*2397insGT | |
| XM_006712881.2:c.*2396_*2397insGT | XP_006712944.1:n.*2396_*2397insGT | |
| XM_006712882.2:c.*2396_*2397insGT | XP_006712945.1:n.*2396_*2397insGT | |
| XM_011512231.1:c.*2396_*2397insGT | XP_011510533.1:n.*2396_*2397insGT | |
| XM_011512232.1:c.*2396_*2397insGT | XP_011510534.1:n.*2396_*2397insGT | |
| NM_014795.4:c.*2396_*2397insGT MANE Select | NP_055610.1:n.*2396_*2397insGT | |
| NM_001171653.2:c.*2396_*2397insGT | NP_001165124.1:n.*2396_*2397insGT |