Revel Score:
ENST00000244571 (MANE Select)
0.586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311000T>C , CM000668.2:g.44311000T>C | GRCh38 |
| NC_000006.11:g.44278737T>C , CM000668.1:g.44278737T>C | GRCh37 |
| NC_000006.10:g.44386715T>C | NCBI36 |
| NG_031952.1:g.7327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.743A>G (AARS2) MANE Select | ENSP00000244571.4:p.His248Arg | |
| ENST00000244571.4:c.743A>G (AARS2) | ENSP00000244571.4:p.His248Arg | |
| ENST00000505802.1:c.855+3358T>C | ||
| NM_020745.3:c.743A>G (AARS2) | NP_065796.1:p.His248Arg | |
| XM_005249245.2:c.743A>G (AARS2) | XP_005249302.1:p.His248Arg | |
| XM_011514764.1:c.743A>G (AARS2) | XP_011513066.1:p.His248Arg | |
| XR_241907.2:n.778A>G (AARS2) | ||
| XM_005249245.3:c.743A>G (AARS2) | XP_005249302.1:p.His248Arg | |
| XM_011514764.2:c.743A>G (AARS2) | XP_011513066.1:p.His248Arg | |
| XM_017011112.1:c.-276A>G (AARS2) | XP_016866601.1:n.-276A>G | |
| NM_020745.4:c.743A>G (AARS2) MANE Select | NP_065796.2:p.His248Arg | |
| NM_001318876.2:c.946-130890T>C (POLR1C) | NP_001305805.1:n.946-130890T>C |