Canonical Allele Identifier: CA1035204

Gene: WARS2

Linked Data

• dbSNP Id: rs772131113
• ExAC: 1:119575768 C / T
• gnomAD v2: 1-119575768-C-T
• gnomAD v4: 1-119033145-C-T
• MyVariant Identifiers: chr1:g.119575768C>T (hg19) ; chr1:g.119033145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033145C>T , CM000663.2:g.119033145C>T	GRCh38
NC_000001.10:g.119575768C>T , CM000663.1:g.119575768C>T	GRCh37
NC_000001.9:g.119377291C>T	NCBI36
NG_050658.1:g.112644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.849G>A MANE Select	ENSP00000235521.4:p.Thr283=
ENST00000235521.4:c.849G>A	ENSP00000235521.4:p.Thr283=
ENST00000369426.9:c.*215G>A	ENSP00000358434.5:n.*215G>A
NM_015836.3:c.849G>A	NP_056651.1:p.Thr283=
NM_201263.2:c.*215G>A	NP_957715.1:n.*215G>A
XM_005270350.2:c.795G>A	XP_005270407.1:p.Thr265=
XM_006710283.1:c.567G>A	XP_006710346.1:p.Thr189=
XM_011540493.1:c.780G>A	XP_011538795.1:p.Thr260=
XM_011540494.1:c.780G>A	XP_011538796.1:p.Thr260=
XM_011540495.1:c.591G>A	XP_011538797.1:p.Thr197=
XM_005270350.3:c.795G>A	XP_005270407.1:p.Thr265=
XM_011540494.2:c.780G>A	XP_011538796.1:p.Thr260=
XM_011540495.2:c.591G>A	XP_011538797.1:p.Thr197=
XM_017000038.1:c.792G>A	XP_016855527.1:p.Thr264=
XM_017000039.1:c.780G>A	XP_016855528.1:p.Thr260=
XM_017000040.1:c.678G>A	XP_016855529.1:p.Thr226=
XM_017000041.2:c.510G>A	XP_016855530.1:p.Thr170=
XM_017000042.1:c.*184G>A	XP_016855531.1:n.*184G>A
XM_024449826.1:c.780G>A	XP_024305594.1:p.Thr260=
XM_024449860.1:c.567G>A	XP_024305628.1:p.Thr189=
XM_024449871.1:c.567G>A	XP_024305639.1:p.Thr189=
NM_001378226.1:c.780G>A	NP_001365155.1:p.Thr260=
NM_001378227.1:c.780G>A	NP_001365156.1:p.Thr260=
NM_001378228.1:c.678G>A	NP_001365157.1:p.Thr226=
NM_001378229.1:c.591G>A	NP_001365158.1:p.Thr197=
NM_001378230.1:c.567G>A	NP_001365159.1:p.Thr189=
NM_001378231.1:c.*184G>A	NP_001365160.1:n.*184G>A
NM_015836.4:c.849G>A MANE Select	NP_056651.1:p.Thr283=