gnomAD v4:
Joint Max Group AF
0.00001993 (EAS)
Exomes Max Group AF
0.00002289 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44301962C>G , CM000668.2:g.44301962C>G | GRCh38 |
| NC_000006.11:g.44269699C>G , CM000668.1:g.44269699C>G | GRCh37 |
| NC_000006.10:g.44377677C>G | NCBI36 |
| NG_031952.1:g.16365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2598+98G>C (AARS2) MANE Select | ENSP00000244571.4:n.2598+98G>C | |
| ENST00000244571.4:c.2598+98G>C (AARS2) | ENSP00000244571.4:n.2598+98G>C | |
| ENST00000438774.2:c.577-4981C>G (TMEM151B) | ENSP00000409337.2:n.577-4981C>G | |
| ENST00000505802.1:c.314-4981C>G | ||
| NM_020745.3:c.2598+98G>C (AARS2) | NP_065796.1:n.2598+98G>C | |
| XM_005249245.2:c.2307+98G>C (AARS2) | XP_005249302.1:n.2307+98G>C | |
| XM_011514764.1:c.2598+98G>C (AARS2) | XP_011513066.1:n.2598+98G>C | |
| XR_241907.2:n.2523+98G>C (AARS2) | ||
| XM_005249245.3:c.2307+98G>C (AARS2) | XP_005249302.1:n.2307+98G>C | |
| XM_011514764.2:c.2598+98G>C (AARS2) | XP_011513066.1:n.2598+98G>C | |
| XM_017011112.1:c.1308+98G>C (AARS2) | XP_016866601.1:n.1308+98G>C | |
| NM_020745.4:c.2598+98G>C (AARS2) MANE Select | NP_065796.2:n.2598+98G>C | |
| NM_001318876.2:c.946-139928C>G (POLR1C) | NP_001305805.1:n.946-139928C>G |