Linked Data
dbSNP Id:
rs755868071
gnomAD v2:
2-145147371-T-TCTCGCGCGC
MyVariant Identifiers:
chr2:g.145147371_145147372insCTCGCGCGC (hg19)
chr2:g.144389804_144389805insCTCGCGCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389812_144389820dup , CM000664.2:g.144389812_144389820dup | GRCh38 |
| NC_000002.11:g.145147379_145147387dup , CM000664.1:g.145147379_145147387dup | GRCh37 |
| NC_000002.10:g.144863849_144863857dup | NCBI36 |
| NG_016431.1:g.135579_135587dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3132_*3140dup | ENSP00000508434.1:n.*3132_*3140dup | |
| ENST00000440875.6:c.2506_2514dup | ENSP00000475553.3:p.Glu838_Lys839insAlaArgGlu | |
| ENST00000627532.3:c.3283_3291dup MANE Select | ENSP00000487174.1:p.Glu1097_Lys1098insAlaArgGlu | |
| ENST00000636026.2:c.3230+53_3231-52dup | ENSP00000490776.1:n.3230+53_3231-52dup | |
| ENST00000636179.1:n.3252_3260dup | ||
| ENST00000636413.1:c.2947_2955dup | ENSP00000490508.1:p.Glu985_Lys986insAlaArgGlu | |
| ENST00000636471.1:c.3358_3366dup | ENSP00000490317.1:p.Glu1122_Lys1123insAlaArgGlu | |
| ENST00000636732.2:c.*3000_*3008dup | ENSP00000490175.1:n.*3000_*3008dup | |
| ENST00000636820.1:n.3383_3391dup | ||
| ENST00000637045.1:c.2947_2955dup | ENSP00000490141.1:p.Glu985_Lys986insAlaArgGlu | |
| ENST00000637304.1:c.2947_2955dup | ENSP00000490872.1:p.Glu985_Lys986insAlaArgGlu | |
| ENST00000638007.1:c.2947_2955dup | ENSP00000490723.1:p.Glu985_Lys986insAlaArgGlu | |
| ENST00000638087.1:c.2947_2955dup | ENSP00000490673.1:p.Glu985_Lys986insAlaArgGlu | |
| ENST00000638128.1:c.2506_2514dup | ENSP00000490934.1:p.Glu838_Lys839insAlaArgGlu | |
| ENST00000639389.1:c.151+6599_151+6607dup | ENSP00000492572.1:n.151+6599_151+6607dup | |
| ENST00000647488.1:c.503_511dup | ENSP00000494820.1:n.503_511dup | |
| ENST00000675069.1:c.814_822dup | ENSP00000502467.1:p.Glu274_Lys275insAlaArgGlu | |
| ENST00000303660.8:c.3280_3288dup | ENSP00000302501.4:p.Glu1096_Lys1097insAlaArgGlu | |
| ENST00000409487.7:c.3283_3291dup | ENSP00000386854.2:p.Glu1097_Lys1098insAlaArgGlu | |
| ENST00000419938.5:c.656-931_656-923dup | ENSP00000394777.2:n.656-931_656-923dup | |
| ENST00000539609.7:c.3211_3219dup | ENSP00000443792.2:p.Glu1073_Lys1074insAlaArgGlu | |
| ENST00000558170.6:c.3283_3291dup | ENSP00000454157.1:p.Glu1097_Lys1098insAlaArgGlu | |
| ENST00000627532.2:c.3283_3291dup | ENSP00000487174.1:p.Glu1097_Lys1098insAlaArgGlu | |
| NM_001171653.1:c.3211_3219dup | NP_001165124.1:p.Glu1073_Lys1074insAlaArgGlu | |
| NM_014795.3:c.3283_3291dup | NP_055610.1:p.Glu1097_Lys1098insAlaArgGlu | |
| XM_006712881.2:c.3283_3291dup | XP_006712944.1:p.Glu1097_Lys1098insAlaArgGlu | |
| XM_006712882.2:c.3283_3291dup | XP_006712945.1:p.Glu1097_Lys1098insAlaArgGlu | |
| XM_011512231.1:c.3274_3282dup | XP_011510533.1:p.Glu1094_Lys1095insAlaArgGlu | |
| XM_011512232.1:c.3262_3270dup | XP_011510534.1:p.Glu1090_Lys1091insAlaArgGlu | |
| NM_014795.4:c.3283_3291dup MANE Select | NP_055610.1:p.Glu1097_Lys1098insAlaArgGlu | |
| NM_001171653.2:c.3211_3219dup | NP_001165124.1:p.Glu1073_Lys1074insAlaArgGlu |