Revel Score:
ENST00000244571 (MANE Select)
0.952
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311004G>T , CM000668.2:g.44311004G>T | GRCh38 |
| NC_000006.11:g.44278741G>T , CM000668.1:g.44278741G>T | GRCh37 |
| NC_000006.10:g.44386719G>T | NCBI36 |
| NG_031952.1:g.7323C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.739C>A (AARS2) MANE Select | ENSP00000244571.4:p.Gln247Lys | |
| ENST00000244571.4:c.739C>A (AARS2) | ENSP00000244571.4:p.Gln247Lys | |
| ENST00000505802.1:c.855+3362G>T | ||
| NM_020745.3:c.739C>A (AARS2) | NP_065796.1:p.Gln247Lys | |
| XM_005249245.2:c.739C>A (AARS2) | XP_005249302.1:p.Gln247Lys | |
| XM_011514764.1:c.739C>A (AARS2) | XP_011513066.1:p.Gln247Lys | |
| XR_241907.2:n.774C>A (AARS2) | ||
| XM_005249245.3:c.739C>A (AARS2) | XP_005249302.1:p.Gln247Lys | |
| XM_011514764.2:c.739C>A (AARS2) | XP_011513066.1:p.Gln247Lys | |
| XM_017011112.1:c.-280C>A (AARS2) | XP_016866601.1:n.-280C>A | |
| NM_020745.4:c.739C>A (AARS2) MANE Select | NP_065796.2:p.Gln247Lys | |
| NM_001318876.2:c.946-130886G>T (POLR1C) | NP_001305805.1:n.946-130886G>T |