Linked Data
ClinVar Variation Id:
205430
dbSNP Id:
rs763719276
ExAC:
6:146056478 C / T
gnomAD v2:
6-146056478-C-T
gnomAD v3:
6-145735342-C-T
gnomAD v4:
6-145735342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145735342C>T , CM000668.2:g.145735342C>T | GRCh38 |
| NC_000006.11:g.146056478C>T , CM000668.1:g.146056478C>T | GRCh37 |
| NC_000006.10:g.146098171C>T | NCBI36 |
| NG_012832.1:g.5514G>A | |
| NG_012832.2:g.5514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.157G>A (EPM2A) MANE Select | ENSP00000356489.3:p.Ala53Thr | |
| ENST00000435470.2:c.157G>A (EPM2A) | ENSP00000405913.2:p.Ala53Thr | |
| ENST00000611340.5:c.-114+654G>A (EPM2A) | ENSP00000480268.1:n.-114+654G>A | |
| ENST00000638262.1:c.157G>A (EPM2A) | ENSP00000492876.1:p.Ala53Thr | |
| ENST00000639049.1:c.129G>A (EPM2A) | ||
| ENST00000639423.1:c.-114+566G>A (EPM2A) | ENSP00000492701.1:n.-114+566G>A | |
| ENST00000639649.1:n.85G>A (EPM2A) | ||
| ENST00000640297.1:n.173G>A (EPM2A) | ||
| ENST00000640898.1:n.82+566G>A (EPM2A) | ||
| ENST00000640980.1:c.-114+566G>A (EPM2A) | ENSP00000491191.1:n.-114+566G>A | |
| ENST00000367519.7:c.157G>A (EPM2A) | ENSP00000356489.3:p.Ala53Thr | |
| ENST00000618445.4:c.157G>A (EPM2A) | ENSP00000480339.1:p.Ala53Thr | |
| NM_001018041.1:c.157G>A (EPM2A) | NP_001018051.1:p.Ala53Thr | |
| NM_005670.3:c.157G>A (EPM2A) | NP_005661.1:p.Ala53Thr | |
| NR_038246.1:n.52+422C>T (EPM2A-DT) | ||
| XM_006715564.2:c.157G>A (EPM2A) | XP_006715627.1:p.Ala53Thr | |
| XM_011536113.1:c.157G>A (EPM2A) | XP_011534415.1:p.Ala53Thr | |
| XM_011536114.1:c.157G>A (EPM2A) | XP_011534416.1:p.Ala53Thr | |
| XM_011536115.1:c.157G>A (EPM2A) | XP_011534417.1:p.Ala53Thr | |
| NM_001360057.1:c.157G>A (EPM2A) | NP_001346986.1:p.Ala53Thr | |
| NM_001360064.1:c.-114+566G>A (EPM2A) | NP_001346993.1:n.-114+566G>A | |
| NM_001360071.1:c.-513G>A (EPM2A) | NP_001347000.1:n.-513G>A | |
| NR_153397.1:n.179G>A (EPM2A) | ||
| NR_153398.1:n.114+566G>A (EPM2A) | ||
| XM_011536113.2:c.157G>A (EPM2A) | XP_011534415.1:p.Ala53Thr | |
| XM_024446550.1:c.157G>A (EPM2A) | XP_024302318.1:p.Ala53Thr | |
| NM_005670.4:c.157G>A (EPM2A) MANE Select | NP_005661.1:p.Ala53Thr | |
| NM_001018041.2:c.157G>A (EPM2A) | NP_001018051.1:p.Ala53Thr | |
| NM_001360057.2:c.157G>A (EPM2A) | NP_001346986.1:p.Ala53Thr | |
| NM_001360064.2:c.-114+566G>A (EPM2A) | NP_001346993.1:n.-114+566G>A | |
| NM_001360071.2:c.-513G>A (EPM2A) | NP_001347000.1:n.-513G>A | |
| NM_001368129.2:c.-467G>A (EPM2A) | NP_001355058.1:n.-467G>A | |
| NM_001368130.1:c.157G>A (EPM2A) | NP_001355059.1:p.Ala53Thr | |
| NM_001368131.1:c.-211G>A (EPM2A) | NP_001355060.1:n.-211G>A | |
| NR_153398.2:n.116+566G>A (EPM2A) |