ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050624 (AMR)
Genomes Max Group AF
0.0002725 (AFR)
Exomes Max Group AF
0.00117678 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145735363C>T , CM000668.2:g.145735363C>T | GRCh38 |
| NC_000006.11:g.146056499C>T , CM000668.1:g.146056499C>T | GRCh37 |
| NC_000006.10:g.146098192C>T | NCBI36 |
| NG_012832.1:g.5493G>A | |
| NG_012832.2:g.5493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.136G>A (EPM2A) MANE Select | ENSP00000356489.3:p.Ala46Thr | |
| ENST00000435470.2:c.136G>A (EPM2A) | ENSP00000405913.2:p.Ala46Thr | |
| ENST00000611340.5:c.-114+633G>A (EPM2A) | ENSP00000480268.1:n.-114+633G>A | |
| ENST00000638262.1:c.136G>A (EPM2A) | ENSP00000492876.1:p.Ala46Thr | |
| ENST00000639049.1:c.108G>A (EPM2A) | ||
| ENST00000639423.1:c.-114+545G>A (EPM2A) | ENSP00000492701.1:n.-114+545G>A | |
| ENST00000639649.1:n.64G>A (EPM2A) | ||
| ENST00000640297.1:n.152G>A (EPM2A) | ||
| ENST00000640898.1:n.82+545G>A (EPM2A) | ||
| ENST00000640980.1:c.-114+545G>A (EPM2A) | ENSP00000491191.1:n.-114+545G>A | |
| ENST00000367519.7:c.136G>A (EPM2A) | ENSP00000356489.3:p.Ala46Thr | |
| ENST00000618445.4:c.136G>A (EPM2A) | ENSP00000480339.1:p.Ala46Thr | |
| NM_001018041.1:c.136G>A (EPM2A) | NP_001018051.1:p.Ala46Thr | |
| NM_005670.3:c.136G>A (EPM2A) | NP_005661.1:p.Ala46Thr | |
| NR_038246.1:n.52+443C>T (EPM2A-DT) | ||
| XM_006715564.2:c.136G>A (EPM2A) | XP_006715627.1:p.Ala46Thr | |
| XM_011536113.1:c.136G>A (EPM2A) | XP_011534415.1:p.Ala46Thr | |
| XM_011536114.1:c.136G>A (EPM2A) | XP_011534416.1:p.Ala46Thr | |
| XM_011536115.1:c.136G>A (EPM2A) | XP_011534417.1:p.Ala46Thr | |
| NM_001360057.1:c.136G>A (EPM2A) | NP_001346986.1:p.Ala46Thr | |
| NM_001360064.1:c.-114+545G>A (EPM2A) | NP_001346993.1:n.-114+545G>A | |
| NM_001360071.1:c.-534G>A (EPM2A) | NP_001347000.1:n.-534G>A | |
| NR_153397.1:n.158G>A (EPM2A) | ||
| NR_153398.1:n.114+545G>A (EPM2A) | ||
| XM_011536113.2:c.136G>A (EPM2A) | XP_011534415.1:p.Ala46Thr | |
| XM_024446550.1:c.136G>A (EPM2A) | XP_024302318.1:p.Ala46Thr | |
| NM_005670.4:c.136G>A (EPM2A) MANE Select | NP_005661.1:p.Ala46Thr | |
| NM_001018041.2:c.136G>A (EPM2A) | NP_001018051.1:p.Ala46Thr | |
| NM_001360057.2:c.136G>A (EPM2A) | NP_001346986.1:p.Ala46Thr | |
| NM_001360064.2:c.-114+545G>A (EPM2A) | NP_001346993.1:n.-114+545G>A | |
| NM_001360071.2:c.-534G>A (EPM2A) | NP_001347000.1:n.-534G>A | |
| NM_001368129.2:c.-488G>A (EPM2A) | NP_001355058.1:n.-488G>A | |
| NM_001368130.1:c.136G>A (EPM2A) | NP_001355059.1:p.Ala46Thr | |
| NM_001368131.1:c.-232G>A (EPM2A) | NP_001355060.1:n.-232G>A | |
| NR_153398.2:n.116+545G>A (EPM2A) |