Linked Data
ClinVar Variation Id:
91114
dbSNP Id:
rs281864943
gnomAD v2:
2-47630332-T-TGGCGGTGCAGCCGAAGGA
gnomAD v4:
2-47403193-T-TGGCGGTGCAGCCGAAGGA
MyVariant Identifiers:
chr2:g.47630334_47630351dup18 (hg19)
chr2:g.47630351_47630352insGCGGTGCAGCCGAAGGAG (hg19)
chr2:g.47630332_47630333insGGCGGTGCAGCCGAAGGA (hg19)
chr2:g.47403195_47403212dup18 (hg38)
chr2:g.47403212_47403213insGCGGTGCAGCCGAAGGAG (hg38)
chr2:g.47403193_47403194insGGCGGTGCAGCCGAAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403195_47403212dup , CM000664.2:g.47403195_47403212dup | GRCh38 |
| NC_000002.11:g.47630334_47630351dup , CM000664.1:g.47630334_47630351dup | GRCh37 |
| NC_000002.10:g.47483838_47483855dup | NCBI36 |
| NG_007110.2:g.5072_5089dup , LRG_218:g.5072_5089dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.4_21dup | ENSP00000495641.2:p.Glu7_Thr8insAlaValGln... | |
| ENST00000233146.7:c.4_21dup MANE Select | ENSP00000233146.2:p.Glu7_Thr8insAlaValGln... | |
| ENST00000543555.6:c.-31+20_-31+37dup | ENSP00000442697.1:n.-31+20_-31+37dup | |
| ENST00000644092.1:c.4_21dup | ENSP00000496351.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000645339.1:c.4_21dup | ENSP00000496441.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000645506.1:c.4_21dup | ENSP00000495455.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000646415.1:c.4_21dup | ENSP00000495543.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000233146.6:c.4_21dup | ENSP00000233146.2:p.Glu7_Thr8insAlaValGln... | |
| ENST00000406134.5:c.4_21dup | ENSP00000384199.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000454849.5:c.-31+20_-31+37dup | ENSP00000411482.1:n.-31+20_-31+37dup | |
| ENST00000543555.5:c.-31+20_-31+37dup | ENSP00000442697.1:n.-31+20_-31+37dup | |
| ENST00000610696.4:c.4_21dup | ENSP00000483159.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000613514.4:c.4_21dup | ENSP00000484137.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000617333.3:c.4_21dup | ENSP00000482468.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000617938.4:c.4_21dup | ENSP00000481158.1:p.Glu7_Thr8insAlaValGln... | |
| ENST00000621359.2:c.4_21dup | ENSP00000481416.1:p.Glu7_Thr8insAlaValGln... | |
| NM_000251.2:c.4_21dup , LRG_218t1:c.4_21dup | NP_000242.1:p.Glu7_Thr8insAlaValGlnProLys... | |
| NM_001258281.1:c.-31+20_-31+37dup | NP_001245210.1:n.-31+20_-31+37dup | |
| XM_005264332.2:c.4_21dup | XP_005264389.2:p.Glu7_Thr8insAlaValGlnPro... | |
| XM_011532867.1:c.4_21dup | XP_011531169.1:p.Glu7_Thr8insAlaValGlnPro... | |
| XR_939685.1:n.76_93dup | ||
| XM_005264332.4:c.4_21dup | XP_005264389.2:p.Glu7_Thr8insAlaValGlnPro... | |
| XM_011532867.2:c.4_21dup | XP_011531169.1:p.Glu7_Thr8insAlaValGlnPro... | |
| XR_001738747.2:n.66_83dup | ||
| XR_939685.2:n.66_83dup | ||
| NM_000251.3:c.4_21dup MANE Select | NP_000242.1:p.Glu7_Thr8insAlaValGlnProLys... |