Linked Data
ClinVar Variation Id:
374851
ClinVar RCV Id:
RCV000415523
dbSNP Id:
rs1057519272
PubMed:
PMID:27431290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82666763del , CM000677.2:g.82666763del | GRCh38 |
| NC_000015.9:g.83335515del , CM000677.1:g.83335515del | GRCh37 |
| NC_000015.8:g.81132570del | NCBI36 |
| NG_052957.1:g.48147del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261722.8:c.1837del (AP3B2) | ENSP00000261722.4:p.Glu613SerfsTer? | |
| ENST00000535359.6:c.1837del (AP3B2) MANE Select | ENSP00000440984.1:p.Glu613SerfsTer? | |
| ENST00000535385.6:n.2340del (AP3B2) | ||
| ENST00000537735.2:n.1983del (AP3B2) | ||
| ENST00000543938.6:n.2040del (AP3B2) | ||
| ENST00000642989.2:c.1966del (AP3B2) | ENSP00000493485.1:p.Glu656SerfsTer? | |
| ENST00000652847.1:c.1837del (AP3B2) | ENSP00000499785.1:p.Glu613SerfsTer? | |
| ENST00000657321.1:c.*1461del (AP3B2) | ENSP00000499716.1:n.*1461del | |
| ENST00000660624.1:c.745del (AP3B2) | ENSP00000499379.1:p.Glu249SerfsTer? | |
| ENST00000661532.1:c.1064del (AP3B2) | ||
| ENST00000663651.1:n.1979del (AP3B2) | ||
| ENST00000666973.1:c.1837del (AP3B2) | ENSP00000499288.1:p.Glu613SerfsTer? | |
| ENST00000667758.1:c.*1725del (AP3B2) | ENSP00000499318.1:n.*1725del | |
| ENST00000668385.1:c.*1635del (AP3B2) | ENSP00000499544.1:n.*1635del | |
| ENST00000668458.1:c.1458del (AP3B2) | ||
| ENST00000668990.2:c.1837del (AP3B2) | ENSP00000499235.1:p.Glu613SerfsTer? | |
| ENST00000669930.1:c.1666del (AP3B2) | ENSP00000499671.1:p.Glu556SerfsTer? | |
| ENST00000679388.1:n.1776del (AP3B2) | ||
| ENST00000679531.1:n.2243del (AP3B2) | ||
| ENST00000679950.1:n.2216del (AP3B2) | ||
| ENST00000680492.1:n.2243del (AP3B2) | ||
| ENST00000680946.1:n.2243del (AP3B2) | ||
| ENST00000681044.1:n.2243del (AP3B2) | ||
| ENST00000681327.1:c.*1461del (AP3B2) | ENSP00000505423.1:n.*1461del | |
| ENST00000681452.1:n.2243del (AP3B2) | ||
| ENST00000681464.1:n.2243del (AP3B2) | ||
| ENST00000261722.7:c.1837del (AP3B2) | ENSP00000261722.3:p.Glu613SerfsTer? | |
| ENST00000535348.5:c.1741del (AP3B2) | ENSP00000438721.1:p.Glu581SerfsTer? | |
| ENST00000535359.5:c.1837del (AP3B2) | ENSP00000440984.1:p.Glu613SerfsTer? | |
| ENST00000543938.5:n.960del (AP3B2) | ||
| ENST00000620652.4:c.1837del (AP3B2) | ENSP00000479229.1:p.Glu613SerfsTer? | |
| NM_001278511.1:c.1741del (AP3B2) | NP_001265440.1:p.Glu581SerfsTer? | |
| NM_001278512.1:c.1837del (AP3B2) | NP_001265441.1:p.Glu613SerfsTer? | |
| NM_004644.4:c.1837del (AP3B2) | NP_004635.2:p.Glu613SerfsTer? | |
| NR_046096.1:n.1328+16617del (CPEB1-AS1) | ||
| XM_011522097.1:c.1765del (AP3B2) | XP_011520399.1:p.Glu589SerfsTer? | |
| XM_011522098.1:c.1741del (AP3B2) | XP_011520400.1:p.Glu581SerfsTer? | |
| XM_011522099.1:c.1837del (AP3B2) | XP_011520401.1:p.Glu613SerfsTer? | |
| XM_011522100.1:c.745del (AP3B2) | XP_011520402.1:p.Glu249SerfsTer? | |
| XM_017022640.2:c.1765del (AP3B2) | XP_016878129.1:p.Glu589SerfsTer? | |
| XM_017022641.2:c.1837del (AP3B2) | XP_016878130.1:p.Glu613SerfsTer27 | |
| XR_001751404.2:n.2003del (AP3B2) | ||
| NM_001278512.2:c.1837del (AP3B2) MANE Select | NP_001265441.1:p.Glu613SerfsTer? | |
| NM_004644.5:c.1837del (AP3B2) | NP_004635.2:p.Glu613SerfsTer? | |
| NM_001278511.2:c.1741del (AP3B2) | NP_001265440.1:p.Glu581SerfsTer? |