Linked Data
ClinVar Variation Id:
4760
ClinVar RCV Id:
RCV000005026
dbSNP Id:
rs587776607
MyVariant Identifiers:
chr2:g.145156862del (hg19)
chr2:g.145156862delT (hg19)
chr2:g.144399295del (hg38)
PubMed:
PMID:11891681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399296del , CM000664.2:g.144399296del | GRCh38 |
| NC_000002.11:g.145156863del , CM000664.1:g.145156863del | GRCh37 |
| NC_000002.10:g.144873333del | NCBI36 |
| NG_016431.1:g.126097del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*1741del | ENSP00000508434.1:n.*1741del | |
| ENST00000440875.6:c.1115del | ENSP00000475553.3:p.Asn372IlefsTer15 | |
| ENST00000627532.3:c.1892del MANE Select | ENSP00000487174.1:p.Asn631IlefsTer15 | |
| ENST00000636026.2:c.1892del | ENSP00000490776.1:p.Asn631IlefsTer15 | |
| ENST00000636179.1:n.1861del | ||
| ENST00000636413.1:c.1556del | ENSP00000490508.1:p.Asn519IlefsTer15 | |
| ENST00000636471.1:c.1967del | ENSP00000490317.1:p.Asn656IlefsTer15 | |
| ENST00000636732.2:c.*1609del | ENSP00000490175.1:n.*1609del | |
| ENST00000636820.1:n.1992del | ||
| ENST00000637045.1:c.1556del | ENSP00000490141.1:p.Asn519IlefsTer15 | |
| ENST00000637304.1:c.1556del | ENSP00000490872.1:p.Asn519IlefsTer15 | |
| ENST00000638007.1:c.1556del | ENSP00000490723.1:p.Asn519IlefsTer15 | |
| ENST00000638087.1:c.1556del | ENSP00000490673.1:p.Asn519IlefsTer15 | |
| ENST00000638128.1:c.1115del | ENSP00000490934.1:p.Asn372IlefsTer15 | |
| ENST00000675069.1:c.-133-445del | ENSP00000502467.1:n.-133-445del | |
| ENST00000675145.1:n.2440del | ||
| ENST00000303660.8:c.1889del | ENSP00000302501.4:p.Asn630IlefsTer15 | |
| ENST00000409487.7:c.1892del | ENSP00000386854.2:p.Asn631IlefsTer15 | |
| ENST00000419938.5:c.655+1904del | ENSP00000394777.2:n.655+1904del | |
| ENST00000427902.5:c.1979del | ENSP00000395496.2:p.Asn660IlefsTer15 | |
| ENST00000440875.5:c.1167+242del | ENSP00000475553.2:n.1167+242del | |
| ENST00000539609.7:c.1820del | ENSP00000443792.2:p.Asn607IlefsTer15 | |
| ENST00000558170.6:c.1892del | ENSP00000454157.1:p.Asn631IlefsTer15 | |
| ENST00000627532.2:c.1892del | ENSP00000487174.1:p.Asn631IlefsTer15 | |
| NM_001171653.1:c.1820del | NP_001165124.1:p.Asn607IlefsTer15 | |
| NM_014795.3:c.1892del | NP_055610.1:p.Asn631IlefsTer15 | |
| XM_006712881.2:c.1892del | XP_006712944.1:p.Asn631IlefsTer15 | |
| XM_006712882.2:c.1892del | XP_006712945.1:p.Asn631IlefsTer15 | |
| XM_011512231.1:c.1883del | XP_011510533.1:p.Asn628IlefsTer15 | |
| XM_011512232.1:c.1871del | XP_011510534.1:p.Asn624IlefsTer15 | |
| NM_014795.4:c.1892del MANE Select | NP_055610.1:p.Asn631IlefsTer15 | |
| NM_001171653.2:c.1820del | NP_001165124.1:p.Asn607IlefsTer15 |