Linked Data
ClinVar Variation Id:
2910137
ClinVar RCV Id:
RCV003747559
dbSNP Id:
rs771906613
ExAC:
2:25463296 C / CA
gnomAD v2:
2-25463296-C-CA
gnomAD v3:
2-25240427-C-CA
gnomAD v4:
2-25240427-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240430dup , CM000664.2:g.25240430dup | GRCh38 |
| NC_000002.11:g.25463299dup , CM000664.1:g.25463299dup | GRCh37 |
| NC_000002.10:g.25316803dup | NCBI36 |
| NG_029465.2:g.107163dup , LRG_459:g.107163dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.515dup | ||
| ENST00000683393.1:c.1342dup | ENSP00000508654.1:n.1342dup | |
| ENST00000683760.1:c.1527dup | ENSP00000507765.1:p.Glu510Ter | |
| ENST00000321117.10:c.2196dup MANE Select | ENSP00000324375.5:p.Glu733Ter | |
| ENST00000264709.7:c.2196dup | ENSP00000264709.3:p.Glu733Ter | |
| ENST00000321117.9:c.2196dup | ENSP00000324375.5:p.Glu733Ter | |
| ENST00000380746.8:c.1629dup | ENSP00000370122.4:p.Glu544Ter | |
| ENST00000380756.7:c.2196dup | ENSP00000370132.3:p.Glu733Ter | |
| ENST00000402667.1:c.1527dup | ENSP00000384237.1:p.Glu510Ter | |
| ENST00000461228.1:n.415dup | ||
| ENST00000466601.5:n.568dup | ||
| ENST00000474887.5:n.515dup | ||
| ENST00000482935.5:n.196dup | ||
| ENST00000491288.5:n.310+212dup | ||
| NM_022552.4:c.2196dup , LRG_459t1:c.2196dup | NP_072046.2:p.Glu733Ter | |
| NM_153759.3:c.1629dup , LRG_459t2:c.1629dup | NP_715640.2:p.Glu544Ter | |
| NM_175629.2:c.2196dup , LRG_459t4:c.2196dup | NP_783328.1:p.Glu733Ter | |
| XM_005264175.3:c.2196dup | XP_005264232.1:p.Glu733Ter | |
| XM_005264177.3:c.1527dup | XP_005264234.1:p.Glu510Ter | |
| XM_006711957.2:c.2196dup | XP_006712020.1:p.Glu733Ter | |
| XM_006711958.2:c.1752dup | XP_006712021.1:p.Glu585Ter | |
| XM_011532662.1:c.2049dup | XP_011530964.1:p.Glu684Ter | |
| XM_011532663.1:c.2031dup | XP_011530965.1:p.Glu678Ter | |
| XM_011532664.1:c.2196dup | XP_011530966.1:p.Glu733Ter | |
| XM_011532665.1:c.1740dup | XP_011530967.1:p.Glu581Ter | |
| XM_011532666.1:c.1668dup | XP_011530968.1:p.Glu557Ter | |
| XM_011532667.1:c.1527dup | XP_011530969.1:p.Glu510Ter | |
| XM_011532668.1:c.2196dup | XP_011530970.1:p.Glu733Ter | |
| NM_001320893.1:c.1740dup | NP_001307822.1:p.Glu581Ter | |
| NR_135490.1:n.2534dup | ||
| XM_005264175.5:c.2196dup | XP_005264232.1:p.Glu733Ter | |
| XM_005264177.4:c.1527dup | XP_005264234.1:p.Glu510Ter | |
| XM_011532662.2:c.2049dup | XP_011530964.1:p.Glu684Ter | |
| XM_011532663.2:c.2031dup | XP_011530965.1:p.Glu678Ter | |
| XM_011532664.2:c.2196dup | XP_011530966.1:p.Glu733Ter | |
| XM_011532666.2:c.1668dup | XP_011530968.1:p.Glu557Ter | |
| XM_011532667.3:c.1527dup | XP_011530969.1:p.Glu510Ter | |
| XM_017003526.1:c.2196dup | XP_016859015.1:p.Glu733Ter | |
| XM_017003527.1:c.1527dup | XP_016859016.1:p.Glu510Ter | |
| XR_001738657.1:n.2473dup | ||
| NM_001375819.1:c.1527dup | NP_001362748.1:p.Glu510Ter | |
| NR_135490.2:n.2427dup | ||
| NM_022552.5:c.2196dup MANE Select | NP_072046.2:p.Glu733Ter |