Linked Data
ClinVar Variation Id:
331289
ClinVar RCV Id:
RCV000351543
dbSNP Id:
rs533637050
ExAC:
2:145146457 G / GA
gnomAD v2:
2-145146457-G-GA
gnomAD v3:
2-144388890-G-GA
gnomAD v4:
2-144388890-G-GA
MyVariant Identifiers:
chr2:g.145146458dupA (hg19)
chr2:g.145146459_145146460insA (hg19)
chr2:g.145146458_145146459insA (hg19)
chr2:g.145146457_145146458insA (hg19)
chr2:g.144388891dupA (hg38)
chr2:g.144388892_144388893insA (hg38)
chr2:g.144388891_144388892insA (hg38)
chr2:g.144388890_144388891insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144388903dup , CM000664.2:g.144388903dup | GRCh38 |
| NC_000002.11:g.145146470dup , CM000664.1:g.145146470dup | GRCh37 |
| NC_000002.10:g.144862940dup | NCBI36 |
| NG_016431.1:g.136501dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440875.6:c.*560dup | ENSP00000475553.3:n.*560dup | |
| ENST00000627532.3:c.*560dup MANE Select | ENSP00000487174.1:n.*560dup | |
| ENST00000636026.2:c.*484dup | ENSP00000490776.1:n.*484dup | |
| ENST00000636179.1:n.4174dup | ||
| ENST00000636413.1:c.*560dup | ENSP00000490508.1:n.*560dup | |
| ENST00000636471.1:c.*560dup | ENSP00000490317.1:n.*560dup | |
| ENST00000636732.2:c.*3922dup | ENSP00000490175.1:n.*3922dup | |
| ENST00000636820.1:n.4305dup | ||
| ENST00000637045.1:c.*560dup | ENSP00000490141.1:n.*560dup | |
| ENST00000637304.1:c.*560dup | ENSP00000490872.1:n.*560dup | |
| ENST00000638007.1:c.*560dup | ENSP00000490723.1:n.*560dup | |
| ENST00000638087.1:c.*560dup | ENSP00000490673.1:n.*560dup | |
| ENST00000638128.1:c.*560dup | ENSP00000490934.1:n.*560dup | |
| ENST00000639389.1:c.151+7521dup | ENSP00000492572.1:n.151+7521dup | |
| ENST00000647488.1:c.1425dup | ENSP00000494820.1:n.1425dup | |
| ENST00000675069.1:c.*560dup | ENSP00000502467.1:n.*560dup | |
| ENST00000409487.7:c.*560dup | ENSP00000386854.2:n.*560dup | |
| ENST00000419938.5:c.656-9dup | ENSP00000394777.2:n.656-9dup | |
| ENST00000627532.2:c.*560dup | ENSP00000487174.1:n.*560dup | |
| NM_001171653.1:c.*560dup | NP_001165124.1:n.*560dup | |
| NM_014795.3:c.*560dup | NP_055610.1:n.*560dup | |
| XM_006712881.2:c.*560dup | XP_006712944.1:n.*560dup | |
| XM_006712882.2:c.*560dup | XP_006712945.1:n.*560dup | |
| XM_011512231.1:c.*560dup | XP_011510533.1:n.*560dup | |
| XM_011512232.1:c.*560dup | XP_011510534.1:n.*560dup | |
| NM_014795.4:c.*560dup MANE Select | NP_055610.1:n.*560dup | |
| NM_001171653.2:c.*560dup | NP_001165124.1:n.*560dup |