Linked Data
ClinVar Variation Id:
387544
dbSNP Id:
rs761970395
ExAC:
6:146056330 A / G
gnomAD v2:
6-146056330-A-G
gnomAD v3:
6-145735194-A-G
gnomAD v4:
6-145735194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145735194A>G , CM000668.2:g.145735194A>G | GRCh38 |
| NC_000006.11:g.146056330A>G , CM000668.1:g.146056330A>G | GRCh37 |
| NC_000006.10:g.146098023A>G | NCBI36 |
| NG_012832.1:g.5662T>C | |
| NG_012832.2:g.5662T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.301+4T>C (EPM2A) MANE Select | ENSP00000356489.3:n.301+4T>C | |
| ENST00000435470.2:c.301+4T>C (EPM2A) | ENSP00000405913.2:n.301+4T>C | |
| ENST00000611340.5:c.-114+802T>C (EPM2A) | ENSP00000480268.1:n.-114+802T>C | |
| ENST00000638262.1:c.301+4T>C (EPM2A) | ENSP00000492876.1:n.301+4T>C | |
| ENST00000638554.1:c.79+4T>C (EPM2A) | ENSP00000492823.1:n.79+4T>C | |
| ENST00000638717.1:c.84+4T>C (EPM2A) | ||
| ENST00000639049.1:c.273+4T>C (EPM2A) | ||
| ENST00000639423.1:c.-114+714T>C (EPM2A) | ENSP00000492701.1:n.-114+714T>C | |
| ENST00000639649.1:n.233T>C (EPM2A) | ||
| ENST00000640297.1:n.317+4T>C (EPM2A) | ||
| ENST00000640351.1:c.37+51T>C (EPM2A) | ||
| ENST00000640898.1:n.82+714T>C (EPM2A) | ||
| ENST00000640980.1:c.-114+714T>C (EPM2A) | ENSP00000491191.1:n.-114+714T>C | |
| ENST00000367519.7:c.301+4T>C (EPM2A) | ENSP00000356489.3:n.301+4T>C | |
| ENST00000435470.1:c.60+4T>C (EPM2A) | ||
| ENST00000618445.4:c.301+4T>C (EPM2A) | ENSP00000480339.1:n.301+4T>C | |
| NM_001018041.1:c.301+4T>C (EPM2A) | NP_001018051.1:n.301+4T>C | |
| NM_005670.3:c.301+4T>C (EPM2A) | NP_005661.1:n.301+4T>C | |
| NR_038246.1:n.52+274A>G (EPM2A-DT) | ||
| XM_006715564.2:c.301+4T>C (EPM2A) | XP_006715627.1:n.301+4T>C | |
| XM_011536113.1:c.301+4T>C (EPM2A) | XP_011534415.1:n.301+4T>C | |
| XM_011536114.1:c.301+4T>C (EPM2A) | XP_011534416.1:n.301+4T>C | |
| XM_011536115.1:c.301+4T>C (EPM2A) | XP_011534417.1:n.301+4T>C | |
| NM_001360057.1:c.301+4T>C (EPM2A) | NP_001346986.1:n.301+4T>C | |
| NM_001360064.1:c.-114+714T>C (EPM2A) | NP_001346993.1:n.-114+714T>C | |
| NM_001360071.1:c.-369+4T>C (EPM2A) | NP_001347000.1:n.-369+4T>C | |
| NR_153397.1:n.323+4T>C (EPM2A) | ||
| NR_153398.1:n.114+714T>C (EPM2A) | ||
| XM_011536113.2:c.301+4T>C (EPM2A) | XP_011534415.1:n.301+4T>C | |
| XM_024446550.1:c.301+4T>C (EPM2A) | XP_024302318.1:n.301+4T>C | |
| NM_005670.4:c.301+4T>C (EPM2A) MANE Select | NP_005661.1:n.301+4T>C | |
| NM_001018041.2:c.301+4T>C (EPM2A) | NP_001018051.1:n.301+4T>C | |
| NM_001360057.2:c.301+4T>C (EPM2A) | NP_001346986.1:n.301+4T>C | |
| NM_001360064.2:c.-114+714T>C (EPM2A) | NP_001346993.1:n.-114+714T>C | |
| NM_001360071.2:c.-369+4T>C (EPM2A) | NP_001347000.1:n.-369+4T>C | |
| NM_001368129.2:c.-323+4T>C (EPM2A) | NP_001355058.1:n.-323+4T>C | |
| NM_001368130.1:c.301+4T>C (EPM2A) | NP_001355059.1:n.301+4T>C | |
| NM_001368131.1:c.-114+51T>C (EPM2A) | NP_001355060.1:n.-114+51T>C | |
| NR_153398.2:n.116+714T>C (EPM2A) |