Linked Data
dbSNP Id:
rs1426940261
MyVariant Identifiers:
chr6:g.44270178del (hg19)
chr6:g.44302442del (hg38)
chr6:g.44302441del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302443del , CM000668.2:g.44302443del | GRCh38 |
| NC_000006.11:g.44270180del , CM000668.1:g.44270180del | GRCh37 |
| NC_000006.10:g.44378158del | NCBI36 |
| NG_031952.1:g.15886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2437del (AARS2) MANE Select | ENSP00000244571.4:p.Asp813MetfsTer6 | |
| ENST00000244571.4:c.2437del (AARS2) | ENSP00000244571.4:p.Asp813MetfsTer6 | |
| ENST00000438774.2:c.577-4500del (TMEM151B) | ENSP00000409337.2:n.577-4500del | |
| ENST00000505802.1:c.314-4500del | ||
| NM_020745.3:c.2437del (AARS2) | NP_065796.1:p.Asp813MetfsTer6 | |
| XM_005249245.2:c.2146del (AARS2) | XP_005249302.1:p.Asp716MetfsTer6 | |
| XM_011514764.1:c.2437del (AARS2) | XP_011513066.1:p.Asp813MetfsTer6 | |
| XR_241907.2:n.2362del (AARS2) | ||
| XM_005249245.3:c.2146del (AARS2) | XP_005249302.1:p.Asp716MetfsTer6 | |
| XM_011514764.2:c.2437del (AARS2) | XP_011513066.1:p.Asp813MetfsTer6 | |
| XM_017011112.1:c.1147del (AARS2) | XP_016866601.1:p.Asp383MetfsTer6 | |
| NM_020745.4:c.2437del (AARS2) MANE Select | NP_065796.2:p.Asp813MetfsTer6 | |
| NM_001318876.2:c.946-139447del (POLR1C) | NP_001305805.1:n.946-139447del |