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:
90829
ClinVar RCV Id:
RCV002415554
dbSNP Id:
rs587779122
gnomAD v4:
2-47475249-CAG-C
MyVariant Identifiers:
chr2:g.47702390_47702391del (hg19)
chr2:g.47702389_47702390del (hg19)
chr2:g.47475251_47475252del (hg38)
chr2:g.47475250_47475251del (hg38)
PubMed:
PMID:7713503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475251_47475252del , CM000664.2:g.47475251_47475252del | GRCh38 |
| NC_000002.11:g.47702390_47702391del , CM000664.1:g.47702390_47702391del | GRCh37 |
| NC_000002.10:g.47555894_47555895del | NCBI36 |
| NG_007110.2:g.77128_77129del , LRG_218:g.77128_77129del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1986_1987del | ENSP00000495641.2:p.Gln662HisfsTer13 | |
| ENST00000233146.7:c.1986_1987del MANE Select | ENSP00000233146.2:p.Gln662HisfsTer13 | |
| ENST00000543555.6:c.1788_1789del | ENSP00000442697.1:p.Gln596HisfsTer13 | |
| ENST00000644092.1:c.*286_*287del | ENSP00000496351.1:n.*286_*287del | |
| ENST00000645339.1:c.1986_1987del | ENSP00000496441.1:p.Gln662HisfsTer13 | |
| ENST00000645506.1:c.1986_1987del | ENSP00000495455.1:p.Gln662HisfsTer13 | |
| ENST00000646415.1:c.1986_1987del | ENSP00000495543.1:p.Gln662HisfsTer13 | |
| ENST00000233146.6:c.1986_1987del | ENSP00000233146.2:p.Gln662HisfsTer13 | |
| ENST00000406134.5:c.1986_1987del | ENSP00000384199.1:p.Gln662HisfsTer13 | |
| ENST00000543555.5:c.1788_1789del | ENSP00000442697.1:p.Gln596HisfsTer13 | |
| ENST00000610696.4:c.*382_*383del | ENSP00000483159.1:n.*382_*383del | |
| ENST00000613514.4:c.*526_*527del | ENSP00000484137.1:n.*526_*527del | |
| ENST00000617333.3:c.*752_*753del | ENSP00000482468.1:n.*752_*753del | |
| ENST00000617938.4:c.*958_*959del | ENSP00000481158.1:n.*958_*959del | |
| ENST00000621359.2:c.1986_1987del | ENSP00000481416.1:p.Gln662HisfsTer13 | |
| NM_000251.2:c.1986_1987del , LRG_218t1:c.1986_1987del | NP_000242.1:p.Gln662HisfsTer13 | |
| NM_001258281.1:c.1788_1789del | NP_001245210.1:p.Gln596HisfsTer13 | |
| XM_005264332.2:c.1986_1987del | XP_005264389.2:p.Gln662HisfsTer13 | |
| XM_011532867.1:c.1986_1987del | XP_011531169.1:p.Gln662HisfsTer13 | |
| XR_939685.1:n.2058_2059del | ||
| XM_005264332.4:c.1986_1987del | XP_005264389.2:p.Gln662HisfsTer13 | |
| XM_011532867.2:c.1986_1987del | XP_011531169.1:p.Gln662HisfsTer13 | |
| XR_001738747.2:n.2048_2049del | ||
| XR_939685.2:n.2048_2049del | ||
| NM_000251.3:c.1986_1987del MANE Select | NP_000242.1:p.Gln662HisfsTer13 |