Canonical Allele Identifier: CA341436696
Gene: WARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802679
ClinVar RCV Id: RCV003232624

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119033243A>G , CM000663.2:g.119033243A>G GRCh38
NC_000001.10:g.119575866A>G , CM000663.1:g.119575866A>G GRCh37
NC_000001.9:g.119377389A>G NCBI36
NG_050658.1:g.112546T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000235521.5:c.751T>C MANE Select ENSP00000235521.4:p.Phe251Leu
ENST00000235521.4:c.751T>C ENSP00000235521.4:p.Phe251Leu
ENST00000369426.9:c.*117T>C ENSP00000358434.5:n.*117T>C
NM_015836.3:c.751T>C NP_056651.1:p.Phe251Leu
NM_201263.2:c.*117T>C NP_957715.1:n.*117T>C
XM_005270350.2:c.697T>C XP_005270407.1:p.Phe233Leu
XM_006710283.1:c.469T>C XP_006710346.1:p.Phe157Leu
XM_011540493.1:c.682T>C XP_011538795.1:p.Phe228Leu
XM_011540494.1:c.682T>C XP_011538796.1:p.Phe228Leu
XM_011540495.1:c.493T>C XP_011538797.1:p.Phe165Leu
XM_005270350.3:c.697T>C XP_005270407.1:p.Phe233Leu
XM_011540494.2:c.682T>C XP_011538796.1:p.Phe228Leu
XM_011540495.2:c.493T>C XP_011538797.1:p.Phe165Leu
XM_017000038.1:c.694T>C XP_016855527.1:p.Phe232Leu
XM_017000039.1:c.682T>C XP_016855528.1:p.Phe228Leu
XM_017000040.1:c.580T>C XP_016855529.1:p.Phe194Leu
XM_017000041.2:c.412T>C XP_016855530.1:p.Phe138Leu
XM_017000042.1:c.*86T>C XP_016855531.1:n.*86T>C
XM_024449826.1:c.682T>C XP_024305594.1:p.Phe228Leu
XM_024449860.1:c.469T>C XP_024305628.1:p.Phe157Leu
XM_024449871.1:c.469T>C XP_024305639.1:p.Phe157Leu
NM_001378226.1:c.682T>C NP_001365155.1:p.Phe228Leu
NM_001378227.1:c.682T>C NP_001365156.1:p.Phe228Leu
NM_001378228.1:c.580T>C NP_001365157.1:p.Phe194Leu
NM_001378229.1:c.493T>C NP_001365158.1:p.Phe165Leu
NM_001378230.1:c.469T>C NP_001365159.1:p.Phe157Leu
NM_001378231.1:c.*86T>C NP_001365160.1:n.*86T>C
NM_015836.4:c.751T>C MANE Select NP_056651.1:p.Phe251Leu