Linked Data
ClinVar Variation Id:
385490
dbSNP Id:
rs776655093
ExAC:
6:146056329 A / G
gnomAD v2:
6-146056329-A-G
gnomAD v3:
6-145735193-A-G
gnomAD v4:
6-145735193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145735193A>G , CM000668.2:g.145735193A>G | GRCh38 |
| NC_000006.11:g.146056329A>G , CM000668.1:g.146056329A>G | GRCh37 |
| NC_000006.10:g.146098022A>G | NCBI36 |
| NG_012832.1:g.5663T>C | |
| NG_012832.2:g.5663T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.301+5T>C (EPM2A) MANE Select | ENSP00000356489.3:n.301+5T>C | |
| ENST00000435470.2:c.301+5T>C (EPM2A) | ENSP00000405913.2:n.301+5T>C | |
| ENST00000611340.5:c.-114+803T>C (EPM2A) | ENSP00000480268.1:n.-114+803T>C | |
| ENST00000638262.1:c.301+5T>C (EPM2A) | ENSP00000492876.1:n.301+5T>C | |
| ENST00000638554.1:c.79+5T>C (EPM2A) | ENSP00000492823.1:n.79+5T>C | |
| ENST00000638717.1:c.84+5T>C (EPM2A) | ||
| ENST00000639049.1:c.273+5T>C (EPM2A) | ||
| ENST00000639423.1:c.-114+715T>C (EPM2A) | ENSP00000492701.1:n.-114+715T>C | |
| ENST00000639649.1:n.234T>C (EPM2A) | ||
| ENST00000640297.1:n.317+5T>C (EPM2A) | ||
| ENST00000640351.1:c.37+52T>C (EPM2A) | ||
| ENST00000640898.1:n.82+715T>C (EPM2A) | ||
| ENST00000640980.1:c.-114+715T>C (EPM2A) | ENSP00000491191.1:n.-114+715T>C | |
| ENST00000367519.7:c.301+5T>C (EPM2A) | ENSP00000356489.3:n.301+5T>C | |
| ENST00000435470.1:c.60+5T>C (EPM2A) | ||
| ENST00000618445.4:c.301+5T>C (EPM2A) | ENSP00000480339.1:n.301+5T>C | |
| NM_001018041.1:c.301+5T>C (EPM2A) | NP_001018051.1:n.301+5T>C | |
| NM_005670.3:c.301+5T>C (EPM2A) | NP_005661.1:n.301+5T>C | |
| NR_038246.1:n.52+273A>G (EPM2A-DT) | ||
| XM_006715564.2:c.301+5T>C (EPM2A) | XP_006715627.1:n.301+5T>C | |
| XM_011536113.1:c.301+5T>C (EPM2A) | XP_011534415.1:n.301+5T>C | |
| XM_011536114.1:c.301+5T>C (EPM2A) | XP_011534416.1:n.301+5T>C | |
| XM_011536115.1:c.301+5T>C (EPM2A) | XP_011534417.1:n.301+5T>C | |
| NM_001360057.1:c.301+5T>C (EPM2A) | NP_001346986.1:n.301+5T>C | |
| NM_001360064.1:c.-114+715T>C (EPM2A) | NP_001346993.1:n.-114+715T>C | |
| NM_001360071.1:c.-369+5T>C (EPM2A) | NP_001347000.1:n.-369+5T>C | |
| NR_153397.1:n.323+5T>C (EPM2A) | ||
| NR_153398.1:n.114+715T>C (EPM2A) | ||
| XM_011536113.2:c.301+5T>C (EPM2A) | XP_011534415.1:n.301+5T>C | |
| XM_024446550.1:c.301+5T>C (EPM2A) | XP_024302318.1:n.301+5T>C | |
| NM_005670.4:c.301+5T>C (EPM2A) MANE Select | NP_005661.1:n.301+5T>C | |
| NM_001018041.2:c.301+5T>C (EPM2A) | NP_001018051.1:n.301+5T>C | |
| NM_001360057.2:c.301+5T>C (EPM2A) | NP_001346986.1:n.301+5T>C | |
| NM_001360064.2:c.-114+715T>C (EPM2A) | NP_001346993.1:n.-114+715T>C | |
| NM_001360071.2:c.-369+5T>C (EPM2A) | NP_001347000.1:n.-369+5T>C | |
| NM_001368129.2:c.-323+5T>C (EPM2A) | NP_001355058.1:n.-323+5T>C | |
| NM_001368130.1:c.301+5T>C (EPM2A) | NP_001355059.1:n.301+5T>C | |
| NM_001368131.1:c.-114+52T>C (EPM2A) | NP_001355060.1:n.-114+52T>C | |
| NR_153398.2:n.116+715T>C (EPM2A) |