Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313346dup , CM000668.2:g.44313346dup | GRCh38 |
| NC_000006.11:g.44281083dup , CM000668.1:g.44281083dup | GRCh37 |
| NC_000006.10:g.44389061dup | NCBI36 |
| NG_031952.1:g.4981dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.-23dup (AARS2) MANE Select | ENSP00000244571.4:n.-23dup | |
| ENST00000505802.1:c.855+5704dup | ||
| XM_005249245.2:c.-23dup (AARS2) | XP_005249302.1:n.-23dup | |
| XM_011514764.1:c.-23dup (AARS2) | XP_011513066.1:n.-23dup | |
| XR_241907.2:n.13dup (AARS2) | ||
| XM_005249245.3:c.-23dup (AARS2) | XP_005249302.1:n.-23dup | |
| XM_011514764.2:c.-23dup (AARS2) | XP_011513066.1:n.-23dup | |
| NM_020745.4:c.-23dup (AARS2) MANE Select | NP_065796.2:n.-23dup | |
| NM_001318876.2:c.946-128544dup (POLR1C) | NP_001305805.1:n.946-128544dup |