Linked Data
ClinVar Variation Id:
4763
ClinVar RCV Id:
RCV000005029
dbSNP Id:
rs587776609
MyVariant Identifiers:
chr2:g.145147096_145147097dupGG (hg19)
chr2:g.144389529_144389530dupGG (hg38)
PubMed:
PMID:11891681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389529_144389530dup , CM000664.2:g.144389529_144389530dup | GRCh38 |
| NC_000002.11:g.145147096_145147097dup , CM000664.1:g.145147096_145147097dup | GRCh37 |
| NC_000002.10:g.144863566_144863567dup | NCBI36 |
| NG_016431.1:g.135862_135863dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*3415_*3416dup | ENSP00000508434.1:n.*3415_*3416dup | |
| ENST00000440875.6:c.2789_2790dup | ENSP00000475553.3:p.Met931ProfsTer? | |
| ENST00000627532.3:c.3566_3567dup MANE Select | ENSP00000487174.1:p.Met1190ProfsTer? | |
| ENST00000636026.2:c.3454_3455dup | ENSP00000490776.1:p.Trp1153HisfsTer4 | |
| ENST00000636179.1:n.3535_3536dup | ||
| ENST00000636413.1:c.3230_3231dup | ENSP00000490508.1:p.Met1078ProfsTer? | |
| ENST00000636471.1:c.3641_3642dup | ENSP00000490317.1:p.Met1215ProfsTer? | |
| ENST00000636732.2:c.*3283_*3284dup | ENSP00000490175.1:n.*3283_*3284dup | |
| ENST00000636820.1:n.3666_3667dup | ||
| ENST00000637045.1:c.3230_3231dup | ENSP00000490141.1:p.Met1078ProfsTer? | |
| ENST00000637304.1:c.3230_3231dup | ENSP00000490872.1:p.Met1078ProfsTer? | |
| ENST00000638007.1:c.3230_3231dup | ENSP00000490723.1:p.Met1078ProfsTer? | |
| ENST00000638087.1:c.3230_3231dup | ENSP00000490673.1:p.Met1078ProfsTer? | |
| ENST00000638128.1:c.2789_2790dup | ENSP00000490934.1:p.Met931ProfsTer? | |
| ENST00000639389.1:c.151+6882_151+6883dup | ENSP00000492572.1:n.151+6882_151+6883dup | |
| ENST00000647488.1:c.786_787dup | ENSP00000494820.1:n.786_787dup | |
| ENST00000675069.1:c.1097_1098dup | ENSP00000502467.1:p.Met367ProfsTer? | |
| ENST00000303660.8:c.3563_3564dup | ENSP00000302501.4:p.Met1189ProfsTer? | |
| ENST00000409487.7:c.3566_3567dup | ENSP00000386854.2:p.Met1190ProfsTer? | |
| ENST00000419938.5:c.656-648_656-647dup | ENSP00000394777.2:n.656-648_656-647dup | |
| ENST00000539609.7:c.3494_3495dup | ENSP00000443792.2:p.Met1166ProfsTer? | |
| ENST00000558170.6:c.3566_3567dup | ENSP00000454157.1:p.Met1190ProfsTer? | |
| ENST00000627532.2:c.3566_3567dup | ENSP00000487174.1:p.Met1190ProfsTer? | |
| NM_001171653.1:c.3494_3495dup | NP_001165124.1:p.Met1166ProfsTer? | |
| NM_014795.3:c.3566_3567dup | NP_055610.1:p.Met1190ProfsTer? | |
| XM_006712881.2:c.3566_3567dup | XP_006712944.1:p.Met1190ProfsTer? | |
| XM_006712882.2:c.3566_3567dup | XP_006712945.1:p.Met1190ProfsTer? | |
| XM_011512231.1:c.3557_3558dup | XP_011510533.1:p.Met1187ProfsTer? | |
| XM_011512232.1:c.3545_3546dup | XP_011510534.1:p.Met1183ProfsTer? | |
| NM_014795.4:c.3566_3567dup MANE Select | NP_055610.1:p.Met1190ProfsTer? | |
| NM_001171653.2:c.3494_3495dup | NP_001165124.1:p.Met1166ProfsTer? |