Linked Data
ClinVar Variation Id:
213970
ClinVar RCV Id:
RCV000199735
dbSNP Id:
rs766771165
ExAC:
6:44275017 C / CA
gnomAD v2:
6-44275017-C-CA
gnomAD v4:
6-44307280-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44307281dup , CM000668.2:g.44307281dup | GRCh38 |
| NC_000006.11:g.44275018dup , CM000668.1:g.44275018dup | GRCh37 |
| NC_000006.10:g.44382996dup | NCBI36 |
| NG_031952.1:g.11046dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.1008dup (AARS2) MANE Select | ENSP00000244571.4:p.Asp337Ter | |
| ENST00000244571.4:c.1008dup (AARS2) | ENSP00000244571.4:p.Asp337Ter | |
| ENST00000438774.2:c.915dup (TMEM151B) | ENSP00000409337.2:n.915dup | |
| ENST00000505802.1:c.494dup | ||
| NM_020745.3:c.1008dup (AARS2) | NP_065796.1:p.Asp337Ter | |
| XM_005249245.2:c.750-250dup (AARS2) | XP_005249302.1:n.750-250dup | |
| XM_011514764.1:c.1008dup (AARS2) | XP_011513066.1:p.Asp337Ter | |
| XR_241907.2:n.1043dup (AARS2) | ||
| XR_926837.1:n.181dup | ||
| XM_005249245.3:c.750-250dup (AARS2) | XP_005249302.1:n.750-250dup | |
| XM_011514764.2:c.1008dup (AARS2) | XP_011513066.1:p.Asp337Ter | |
| XM_017011112.1:c.-269-250dup (AARS2) | XP_016866601.1:n.-269-250dup | |
| NM_020745.4:c.1008dup (AARS2) MANE Select | NP_065796.2:p.Asp337Ter | |
| NM_001318876.2:c.946-134609dup (POLR1C) | NP_001305805.1:n.946-134609dup |