gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311098A>G , CM000668.2:g.44311098A>G | GRCh38 |
| NC_000006.11:g.44278835A>G , CM000668.1:g.44278835A>G | GRCh37 |
| NC_000006.10:g.44386813A>G | NCBI36 |
| NG_031952.1:g.7229T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.645T>C (AARS2) MANE Select | ENSP00000244571.4:p.Thr215= | |
| ENST00000244571.4:c.645T>C (AARS2) | ENSP00000244571.4:p.Thr215= | |
| ENST00000505802.1:c.855+3456A>G | ||
| NM_020745.3:c.645T>C (AARS2) | NP_065796.1:p.Thr215= | |
| XM_005249245.2:c.645T>C (AARS2) | XP_005249302.1:p.Thr215= | |
| XM_011514764.1:c.645T>C (AARS2) | XP_011513066.1:p.Thr215= | |
| XR_241907.2:n.680T>C (AARS2) | ||
| XM_005249245.3:c.645T>C (AARS2) | XP_005249302.1:p.Thr215= | |
| XM_011514764.2:c.645T>C (AARS2) | XP_011513066.1:p.Thr215= | |
| XM_017011112.1:c.-374T>C (AARS2) | XP_016866601.1:n.-374T>C | |
| NM_020745.4:c.645T>C (AARS2) MANE Select | NP_065796.2:p.Thr215= | |
| NM_001318876.2:c.946-130792A>G (POLR1C) | NP_001305805.1:n.946-130792A>G |