Canonical Allele Identifier: CA341436515

Gene: WARS2

Linked Data

• ClinVar Variation Id: 1994784
• ClinVar RCV Id: RCV002791392
• dbSNP Id: rs952768523
• MyVariant Identifiers: chr1:g.119575776C>T (hg19) ; chr1:g.119033153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033153C>T , CM000663.2:g.119033153C>T	GRCh38
NC_000001.10:g.119575776C>T , CM000663.1:g.119575776C>T	GRCh37
NC_000001.9:g.119377299C>T	NCBI36
NG_050658.1:g.112636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.841G>A MANE Select	ENSP00000235521.4:p.Ala281Thr
ENST00000235521.4:c.841G>A	ENSP00000235521.4:p.Ala281Thr
ENST00000369426.9:c.*207G>A	ENSP00000358434.5:n.*207G>A
NM_015836.3:c.841G>A	NP_056651.1:p.Ala281Thr
NM_201263.2:c.*207G>A	NP_957715.1:n.*207G>A
XM_005270350.2:c.787G>A	XP_005270407.1:p.Ala263Thr
XM_006710283.1:c.559G>A	XP_006710346.1:p.Ala187Thr
XM_011540493.1:c.772G>A	XP_011538795.1:p.Ala258Thr
XM_011540494.1:c.772G>A	XP_011538796.1:p.Ala258Thr
XM_011540495.1:c.583G>A	XP_011538797.1:p.Ala195Thr
XM_005270350.3:c.787G>A	XP_005270407.1:p.Ala263Thr
XM_011540494.2:c.772G>A	XP_011538796.1:p.Ala258Thr
XM_011540495.2:c.583G>A	XP_011538797.1:p.Ala195Thr
XM_017000038.1:c.784G>A	XP_016855527.1:p.Ala262Thr
XM_017000039.1:c.772G>A	XP_016855528.1:p.Ala258Thr
XM_017000040.1:c.670G>A	XP_016855529.1:p.Ala224Thr
XM_017000041.2:c.502G>A	XP_016855530.1:p.Ala168Thr
XM_017000042.1:c.*176G>A	XP_016855531.1:n.*176G>A
XM_024449826.1:c.772G>A	XP_024305594.1:p.Ala258Thr
XM_024449860.1:c.559G>A	XP_024305628.1:p.Ala187Thr
XM_024449871.1:c.559G>A	XP_024305639.1:p.Ala187Thr
NM_001378226.1:c.772G>A	NP_001365155.1:p.Ala258Thr
NM_001378227.1:c.772G>A	NP_001365156.1:p.Ala258Thr
NM_001378228.1:c.670G>A	NP_001365157.1:p.Ala224Thr
NM_001378229.1:c.583G>A	NP_001365158.1:p.Ala195Thr
NM_001378230.1:c.559G>A	NP_001365159.1:p.Ala187Thr
NM_001378231.1:c.*176G>A	NP_001365160.1:n.*176G>A
NM_015836.4:c.841G>A MANE Select	NP_056651.1:p.Ala281Thr