Linked Data
dbSNP Id:
rs1200844365
gnomAD v2:
6-44270048-G-GGA
gnomAD v3:
6-44302311-G-GGA
gnomAD v4:
6-44302311-G-GGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302315_44302316dup , CM000668.2:g.44302315_44302316dup | GRCh38 |
| NC_000006.11:g.44270052_44270053dup , CM000668.1:g.44270052_44270053dup | GRCh37 |
| NC_000006.10:g.44378030_44378031dup | NCBI36 |
| NG_031952.1:g.16014_16015dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2487+78_2487+79dup (AARS2) MANE Select | ENSP00000244571.4:n.2487+78_2487+79dup | |
| ENST00000244571.4:c.2487+78_2487+79dup (AARS2) | ENSP00000244571.4:n.2487+78_2487+79dup | |
| ENST00000438774.2:c.577-4628_577-4627dup (TMEM151B) | ENSP00000409337.2:n.577-4628_577-4627dup | |
| ENST00000505802.1:c.314-4628_314-4627dup | ||
| NM_020745.3:c.2487+78_2487+79dup (AARS2) | NP_065796.1:n.2487+78_2487+79dup | |
| XM_005249245.2:c.2196+78_2196+79dup (AARS2) | XP_005249302.1:n.2196+78_2196+79dup | |
| XM_011514764.1:c.2487+78_2487+79dup (AARS2) | XP_011513066.1:n.2487+78_2487+79dup | |
| XR_241907.2:n.2412+78_2412+79dup (AARS2) | ||
| XM_005249245.3:c.2196+78_2196+79dup (AARS2) | XP_005249302.1:n.2196+78_2196+79dup | |
| XM_011514764.2:c.2487+78_2487+79dup (AARS2) | XP_011513066.1:n.2487+78_2487+79dup | |
| XM_017011112.1:c.1197+78_1197+79dup (AARS2) | XP_016866601.1:n.1197+78_1197+79dup | |
| NM_020745.4:c.2487+78_2487+79dup (AARS2) MANE Select | NP_065796.2:n.2487+78_2487+79dup | |
| NM_001318876.2:c.946-139575_946-139574dup (POLR1C) | NP_001305805.1:n.946-139575_946-139574dup |