Linked Data
ClinVar Variation Id:
229809
dbSNP Id:
rs876658211
ExAC:
2:47709960 C / CA
gnomAD v2:
2-47709960-C-CA
gnomAD v3:
2-47482821-C-CA
gnomAD v4:
2-47482821-C-CA
MyVariant Identifiers:
chr2:g.47709963dupA (hg19)
chr2:g.47709960_47709961insA (hg19)
chr2:g.47482824dupA (hg38)
chr2:g.47482821_47482822insA (hg38)
PubMed:
PMID:15713769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482824dup , CM000664.2:g.47482824dup | GRCh38 |
| NC_000002.11:g.47709963dup , CM000664.1:g.47709963dup | GRCh37 |
| NC_000002.10:g.47563467dup | NCBI36 |
| NG_007110.2:g.84701dup , LRG_218:g.84701dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.2634+1953dup | ENSP00000495641.2:n.2634+1953dup | |
| ENST00000233146.7:c.2680dup MANE Select | ENSP00000233146.2:p.Met894AsnfsTer5 | |
| ENST00000543555.6:c.2482dup | ENSP00000442697.1:p.Met828AsnfsTer5 | |
| ENST00000644092.1:c.*934+1953dup | ENSP00000496351.1:n.*934+1953dup | |
| ENST00000644900.1:c.487+1953dup | ||
| ENST00000645339.1:c.2634+1953dup | ENSP00000496441.1:n.2634+1953dup | |
| ENST00000645506.1:c.2634+1953dup | ENSP00000495455.1:n.2634+1953dup | |
| ENST00000646415.1:c.2634+1953dup | ENSP00000495543.1:n.2634+1953dup | |
| ENST00000233146.6:c.2680dup | ENSP00000233146.2:p.Met894AsnfsTer5 | |
| ENST00000406134.5:c.2634+1953dup | ENSP00000384199.1:n.2634+1953dup | |
| ENST00000461394.5:n.75+1953dup | ||
| ENST00000543555.5:c.2482dup | ENSP00000442697.1:p.Met828AsnfsTer5 | |
| ENST00000610696.4:c.*1076dup | ENSP00000483159.1:n.*1076dup | |
| ENST00000613514.4:c.*1220dup | ENSP00000484137.1:n.*1220dup | |
| ENST00000617333.3:c.*1446dup | ENSP00000482468.1:n.*1446dup | |
| ENST00000617938.4:c.*1652dup | ENSP00000481158.1:n.*1652dup | |
| ENST00000621359.2:c.*246dup | ENSP00000481416.1:n.*246dup | |
| NM_000251.2:c.2680dup , LRG_218t1:c.2680dup | NP_000242.1:p.Met894AsnfsTer5 | |
| NM_001258281.1:c.2482dup | NP_001245210.1:p.Met828AsnfsTer5 | |
| XM_005264332.2:c.2634+1953dup | XP_005264389.2:n.2634+1953dup | |
| XM_011532867.1:c.2634+1953dup | XP_011531169.1:n.2634+1953dup | |
| XR_939685.1:n.2706+1953dup | ||
| XM_005264332.4:c.2634+1953dup | XP_005264389.2:n.2634+1953dup | |
| XM_011532867.2:c.2634+1953dup | XP_011531169.1:n.2634+1953dup | |
| XR_001738747.2:n.2696+1953dup | ||
| XR_939685.2:n.2696+1953dup | ||
| NM_000251.3:c.2680dup MANE Select | NP_000242.1:p.Met894AsnfsTer5 |