Canonical Allele Identifier: CA420192372

Gene: WARS2

Linked Data

• dbSNP Id: rs1450936966
• gnomAD v2: 1-119575738-G-A
• gnomAD v3: 1-119033115-G-A
• gnomAD v4: 1-119033115-G-A
• MyVariant Identifiers: chr1:g.119575738G>A (hg19) ; chr1:g.119033115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033115G>A , CM000663.2:g.119033115G>A	GRCh38
NC_000001.10:g.119575738G>A , CM000663.1:g.119575738G>A	GRCh37
NC_000001.9:g.119377261G>A	NCBI36
NG_050658.1:g.112674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.879C>T MANE Select	ENSP00000235521.4:p.Arg293=
ENST00000235521.4:c.879C>T	ENSP00000235521.4:p.Arg293=
ENST00000369426.9:c.*245C>T	ENSP00000358434.5:n.*245C>T
NM_015836.3:c.879C>T	NP_056651.1:p.Arg293=
NM_201263.2:c.*245C>T	NP_957715.1:n.*245C>T
XM_005270350.2:c.825C>T	XP_005270407.1:p.Arg275=
XM_006710283.1:c.597C>T	XP_006710346.1:p.Arg199=
XM_011540493.1:c.810C>T	XP_011538795.1:p.Arg270=
XM_011540494.1:c.810C>T	XP_011538796.1:p.Arg270=
XM_011540495.1:c.621C>T	XP_011538797.1:p.Arg207=
XM_005270350.3:c.825C>T	XP_005270407.1:p.Arg275=
XM_011540494.2:c.810C>T	XP_011538796.1:p.Arg270=
XM_011540495.2:c.621C>T	XP_011538797.1:p.Arg207=
XM_017000038.1:c.822C>T	XP_016855527.1:p.Arg274=
XM_017000039.1:c.810C>T	XP_016855528.1:p.Arg270=
XM_017000040.1:c.708C>T	XP_016855529.1:p.Arg236=
XM_017000041.2:c.540C>T	XP_016855530.1:p.Arg180=
XM_017000042.1:c.*214C>T	XP_016855531.1:n.*214C>T
XM_024449826.1:c.810C>T	XP_024305594.1:p.Arg270=
XM_024449860.1:c.597C>T	XP_024305628.1:p.Arg199=
XM_024449871.1:c.597C>T	XP_024305639.1:p.Arg199=
NM_001378226.1:c.810C>T	NP_001365155.1:p.Arg270=
NM_001378227.1:c.810C>T	NP_001365156.1:p.Arg270=
NM_001378228.1:c.708C>T	NP_001365157.1:p.Arg236=
NM_001378229.1:c.621C>T	NP_001365158.1:p.Arg207=
NM_001378230.1:c.597C>T	NP_001365159.1:p.Arg199=
NM_001378231.1:c.*214C>T	NP_001365160.1:n.*214C>T
NM_015836.4:c.879C>T MANE Select	NP_056651.1:p.Arg293=