Linked Data
ClinVar Variation Id:
440915
dbSNP Id:
rs139548132
ExAC:
1:119683231 A / C
gnomAD v2:
1-119683231-A-C
gnomAD v3:
1-119140608-A-C
gnomAD v4:
1-119140608-A-C
MyVariant Identifiers:
chr1:g.119683231A>C (hg19)
chr1:g.119683231_119683241delinsCGCGCTCACGC (hg19)
chr1:g.119140608A>C (hg38)
chr1:g.119140608_119140618delinsCGCGCTCACGC (hg38)
PubMed:
PMID:28236339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119140608A>C , CM000663.2:g.119140608A>C | GRCh38 |
| NC_000001.10:g.119683231A>C , CM000663.1:g.119683231A>C | GRCh37 |
| NC_000001.9:g.119484754A>C | NCBI36 |
| NG_050658.1:g.5181T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.37T>G (WARS2) MANE Select | ENSP00000235521.4:p.Trp13Gly | |
| ENST00000235521.4:c.37T>G (WARS2) | ENSP00000235521.4:p.Trp13Gly | |
| ENST00000369426.9:c.37T>G (WARS2) | ENSP00000358434.5:p.Trp13Gly | |
| ENST00000495746.5:n.47T>G (WARS2) | ||
| ENST00000497761.1:n.31T>G (WARS2) | ||
| NM_015836.3:c.37T>G (WARS2) | NP_056651.1:p.Trp13Gly | |
| NM_201263.2:c.37T>G (WARS2) | NP_957715.1:p.Trp13Gly | |
| NR_125974.1:n.213A>C (WARS2-AS1) | ||
| NR_125975.1:n.213A>C (WARS2-AS1) | ||
| NR_125976.1:n.213A>C (WARS2-AS1) | ||
| NR_125977.1:n.213A>C (WARS2-AS1) | ||
| XM_006710283.1:c.-533T>G (WARS2) | XP_006710346.1:n.-533T>G | |
| XM_011540493.1:c.-405T>G (WARS2) | XP_011538795.1:n.-405T>G | |
| XM_011540494.1:c.-118T>G (WARS2) | XP_011538796.1:n.-118T>G | |
| XM_011540495.1:c.37T>G (WARS2) | XP_011538797.1:p.Trp13Gly | |
| XM_011540494.2:c.-118T>G (WARS2) | XP_011538796.1:n.-118T>G | |
| XM_011540495.2:c.37T>G (WARS2) | XP_011538797.1:p.Trp13Gly | |
| XM_017000038.1:c.37T>G (WARS2) | XP_016855527.1:p.Trp13Gly | |
| XM_017000039.1:c.-309T>G (WARS2) | XP_016855528.1:n.-309T>G | |
| XM_017000040.1:c.37T>G (WARS2) | XP_016855529.1:p.Trp13Gly | |
| XM_017000041.2:c.-533T>G (WARS2) | XP_016855530.1:n.-533T>G | |
| XM_017000042.1:c.37T>G (WARS2) | XP_016855531.1:p.Trp13Gly | |
| XM_024449826.1:c.-405T>G (WARS2) | XP_024305594.1:n.-405T>G | |
| XM_024449860.1:c.-533T>G (WARS2) | XP_024305628.1:n.-533T>G | |
| XM_024449871.1:c.-437T>G (WARS2) | XP_024305639.1:n.-437T>G | |
| NM_001378226.1:c.-118T>G (WARS2) | NP_001365155.1:n.-118T>G | |
| NM_001378227.1:c.-309T>G (WARS2) | NP_001365156.1:n.-309T>G | |
| NM_001378228.1:c.37T>G (WARS2) | NP_001365157.1:p.Trp13Gly | |
| NM_001378229.1:c.37T>G (WARS2) | NP_001365158.1:p.Trp13Gly | |
| NM_001378230.1:c.-437T>G (WARS2) | NP_001365159.1:n.-437T>G | |
| NM_001378231.1:c.37T>G (WARS2) | NP_001365160.1:p.Trp13Gly | |
| NM_015836.4:c.37T>G (WARS2) MANE Select | NP_056651.1:p.Trp13Gly |