Linked Data
ClinVar Variation Id:
357026
ClinVar RCV Id:
RCV000295468
dbSNP Id:
rs34687863
gnomAD v2:
6-44266648-C-CTT
gnomAD v3:
6-44298911-C-CTT
gnomAD v4:
6-44298911-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44298912_44298913insTT , CM000668.2:g.44298912_44298913insTT | GRCh38 |
| NC_000006.11:g.44266649_44266650insTT , CM000668.1:g.44266649_44266650insTT | GRCh37 |
| NC_000006.10:g.44374627_44374628insTT | NCBI36 |
| NG_031952.1:g.19415_19416insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.*1635_*1636insAA (AARS2) MANE Select | ENSP00000244571.4:n.*1635_*1636insAA | |
| ENST00000438774.2:c.577-8031_577-8030insTT (TMEM151B) | ENSP00000409337.2:n.577-8031_577-8030insTT | |
| ENST00000505802.1:c.314-8031_314-8030insTT | ||
| NM_020745.3:c.*1635_*1636insAA (AARS2) | NP_065796.1:n.*1635_*1636insAA | |
| XM_011514764.1:c.2794-600_2794-599insAA (AARS2) | XP_011513066.1:n.2794-600_2794-599insAA | |
| XM_005249245.3:c.*1635_*1636insAA (AARS2) | XP_005249302.1:n.*1635_*1636insAA | |
| XM_011514764.2:c.2794-600_2794-599insAA (AARS2) | XP_011513066.1:n.2794-600_2794-599insAA | |
| XM_017011112.1:c.*1635_*1636insAA (AARS2) | XP_016866601.1:n.*1635_*1636insAA | |
| NM_020745.4:c.*1635_*1636insAA (AARS2) MANE Select | NP_065796.2:n.*1635_*1636insAA | |
| NM_001318876.2:c.946-142978_946-142977insTT (POLR1C) | NP_001305805.1:n.946-142978_946-142977insTT |