Linked Data
ClinVar Variation Id:
332465
ClinVar RCV Id:
RCV000294976
dbSNP Id:
rs375494218
ExAC:
2:175689249 G / GA
gnomAD v2:
2-175689249-G-GA
gnomAD v3:
2-174824521-G-GA
gnomAD v4:
2-174824521-G-GA
MyVariant Identifiers:
chr2:g.175689250dupA (hg19)
chr2:g.175689253_175689254insA (hg19)
chr2:g.175689250_175689251insA (hg19)
chr2:g.175689249_175689250insA (hg19)
chr2:g.174824522dupA (hg38)
chr2:g.174824525_174824526insA (hg38)
chr2:g.174824522_174824523insA (hg38)
chr2:g.174824521_174824522insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824532dup , CM000664.2:g.174824532dup | GRCh38 |
| NC_000002.11:g.175689260dup , CM000664.1:g.175689260dup | GRCh37 |
| NC_000002.10:g.175397506dup | NCBI36 |
| NG_012642.1:g.185921dup | |
| NG_012642.2:g.185921dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295497.13:c.253-4dup | ENSP00000295497.7:n.253-4dup | |
| ENST00000444394.7:c.253-4dup | ENSP00000411911.2:n.253-4dup | |
| ENST00000295497.12:c.253-4dup | ENSP00000295497.7:n.253-4dup | |
| ENST00000409089.7:c.-48-4dup | ENSP00000386322.3:n.-48-4dup | |
| ENST00000409900.9:c.628-4dup MANE Select | ENSP00000386741.4:n.628-4dup | |
| ENST00000413882.6:c.82-4dup | ENSP00000410496.2:n.82-4dup | |
| ENST00000425395.6:c.*75-4dup | ENSP00000405270.2:n.*75-4dup | |
| ENST00000443238.6:c.106-4dup | ENSP00000409798.2:n.106-4dup | |
| ENST00000444394.6:c.253-4dup | ENSP00000411911.2:n.253-4dup | |
| ENST00000444573.2:c.472-4dup | ENSP00000392603.2:n.472-4dup | |
| ENST00000451799.2:c.472-4dup | ENSP00000416316.2:n.472-4dup | |
| ENST00000469597.2:c.*276-4dup | ENSP00000498417.1:n.*276-4dup | |
| ENST00000488080.6:n.271-4dup | ||
| ENST00000650731.1:c.-48-4dup | ENSP00000499146.1:n.-48-4dup | |
| ENST00000650734.1:c.*528-4dup | ENSP00000498742.1:n.*528-4dup | |
| ENST00000650770.1:c.*542-4dup | ENSP00000499036.1:n.*542-4dup | |
| ENST00000650938.1:c.152-4dup | ||
| ENST00000651063.1:n.679-4dup | ||
| ENST00000651246.1:c.220-4dup | ENSP00000498484.1:n.220-4dup | |
| ENST00000651315.1:c.220-4dup | ENSP00000498692.1:n.220-4dup | |
| ENST00000651373.1:c.142-4dup | ENSP00000499174.1:n.142-4dup | |
| ENST00000651501.1:c.*75-4dup | ENSP00000498894.1:n.*75-4dup | |
| ENST00000651580.1:c.*207-4dup | ENSP00000498631.1:n.*207-4dup | |
| ENST00000651599.1:c.*112-4dup | ENSP00000498535.1:n.*112-4dup | |
| ENST00000651717.1:c.253-12040dup | ENSP00000499124.1:n.253-12040dup | |
| ENST00000651803.1:c.*620-4dup | ENSP00000499007.1:n.*620-4dup | |
| ENST00000651971.1:c.*428-4dup | ENSP00000499035.1:n.*428-4dup | |
| ENST00000652036.1:c.253-4dup | ENSP00000499139.1:n.253-4dup | |
| ENST00000652154.1:n.526-4dup | ||
| ENST00000652208.1:c.472-4dup | ENSP00000498475.1:n.472-4dup | |
| ENST00000652434.1:c.589-4dup | ENSP00000498549.1:n.589-4dup | |
| ENST00000652437.1:n.771-4dup | ||
| ENST00000652674.1:c.*112-4dup | ENSP00000498599.1:n.*112-4dup | |
| ENST00000652734.1:n.525-4dup | ||
| ENST00000652756.1:c.472-4dup | ENSP00000498281.1:n.472-4dup | |
| ENST00000652768.1:n.520-4dup | ||
| ENST00000295497.11:c.253-4dup | ENSP00000295497.7:n.253-4dup | |
| ENST00000409089.6:c.-48-4dup | ENSP00000386322.2:n.-48-4dup | |
| ENST00000409156.7:c.550-4dup | ENSP00000386470.3:n.550-4dup | |
| ENST00000409597.5:c.76-4dup | ENSP00000386469.1:n.76-4dup | |
| ENST00000409900.7:c.628-4dup | ENSP00000386741.3:n.628-4dup | |
| ENST00000413882.5:c.82-4dup | ENSP00000410496.1:n.82-4dup | |
| ENST00000425395.5:c.*179-4dup | ENSP00000405270.1:n.*179-4dup | |
| ENST00000443238.5:c.106-4dup | ENSP00000409798.1:n.106-4dup | |
| ENST00000444394.5:c.-48-4dup | ENSP00000411911.1:n.-48-4dup | |
| ENST00000444573.1:c.253-4dup | ENSP00000392603.1:n.253-4dup | |
| ENST00000485882.1:n.87-4dup | ||
| ENST00000488080.5:n.479-4dup | ||
| NM_001025201.3:c.550-4dup | NP_001020372.2:n.550-4dup | |
| NM_001206602.1:c.253-4dup | NP_001193531.1:n.253-4dup | |
| NM_001822.5:c.628-4dup | NP_001813.1:n.628-4dup | |
| NR_038133.1:n.494-4dup | ||
| NM_001025201.4:c.550-4dup | NP_001020372.2:n.550-4dup | |
| NM_001206602.2:c.253-4dup | NP_001193531.1:n.253-4dup | |
| NM_001371513.1:c.628-4dup | NP_001358442.1:n.628-4dup | |
| NM_001371514.1:c.679-4dup | NP_001358443.1:n.679-4dup | |
| NM_001822.7:c.628-4dup MANE Select | NP_001813.1:n.628-4dup | |
| NR_038133.2:n.496-4dup |