Canonical Allele Identifier: CA341436439

Gene: WARS2

Linked Data

• ClinVar Variation Id: 1806490
• ClinVar RCV Id: RCV002472391
• MyVariant Identifiers: chr1:g.119575735G>T (hg19) ; chr1:g.119033112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033112G>T , CM000663.2:g.119033112G>T	GRCh38
NC_000001.10:g.119575735G>T , CM000663.1:g.119575735G>T	GRCh37
NC_000001.9:g.119377258G>T	NCBI36
NG_050658.1:g.112677C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.882C>A MANE Select	ENSP00000235521.4:p.Ser294Arg
ENST00000235521.4:c.882C>A	ENSP00000235521.4:p.Ser294Arg
ENST00000369426.9:c.*248C>A	ENSP00000358434.5:n.*248C>A
NM_015836.3:c.882C>A	NP_056651.1:p.Ser294Arg
NM_201263.2:c.*248C>A	NP_957715.1:n.*248C>A
XM_005270350.2:c.828C>A	XP_005270407.1:p.Ser276Arg
XM_006710283.1:c.600C>A	XP_006710346.1:p.Ser200Arg
XM_011540493.1:c.813C>A	XP_011538795.1:p.Ser271Arg
XM_011540494.1:c.813C>A	XP_011538796.1:p.Ser271Arg
XM_011540495.1:c.624C>A	XP_011538797.1:p.Ser208Arg
XM_005270350.3:c.828C>A	XP_005270407.1:p.Ser276Arg
XM_011540494.2:c.813C>A	XP_011538796.1:p.Ser271Arg
XM_011540495.2:c.624C>A	XP_011538797.1:p.Ser208Arg
XM_017000038.1:c.825C>A	XP_016855527.1:p.Ser275Arg
XM_017000039.1:c.813C>A	XP_016855528.1:p.Ser271Arg
XM_017000040.1:c.711C>A	XP_016855529.1:p.Ser237Arg
XM_017000041.2:c.543C>A	XP_016855530.1:p.Ser181Arg
XM_017000042.1:c.*217C>A	XP_016855531.1:n.*217C>A
XM_024449826.1:c.813C>A	XP_024305594.1:p.Ser271Arg
XM_024449860.1:c.600C>A	XP_024305628.1:p.Ser200Arg
XM_024449871.1:c.600C>A	XP_024305639.1:p.Ser200Arg
NM_001378226.1:c.813C>A	NP_001365155.1:p.Ser271Arg
NM_001378227.1:c.813C>A	NP_001365156.1:p.Ser271Arg
NM_001378228.1:c.711C>A	NP_001365157.1:p.Ser237Arg
NM_001378229.1:c.624C>A	NP_001365158.1:p.Ser208Arg
NM_001378230.1:c.600C>A	NP_001365159.1:p.Ser200Arg
NM_001378231.1:c.*217C>A	NP_001365160.1:n.*217C>A
NM_015836.4:c.882C>A MANE Select	NP_056651.1:p.Ser294Arg