Canonical Allele Identifier: CA1035414

Gene: WARS2 WARS2-AS1

Linked Data

• ClinVar Variation Id: 440915
• ClinVar RCV Id: RCV000509078 ; RCV000894409 ; RCV001836831 ; RCV002524935 ; RCV003235260 ; RCV003419881
• 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