Canonical Allele Identifier: CA30376556

Gene: WARS2

Linked Data

• ClinVar Variation Id: 2895133
• ClinVar RCV Id: RCV003728258
• dbSNP Id: rs946355135
• gnomAD v3: 1-119033109-C-T
• gnomAD v4: 1-119033109-C-T
• COSMIC: COSM2179508
• MyVariant Identifiers: chr1:g.119575732C>T (hg19) ; chr1:g.119033109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033109C>T , CM000663.2:g.119033109C>T	GRCh38
NC_000001.10:g.119575732C>T , CM000663.1:g.119575732C>T	GRCh37
NC_000001.9:g.119377255C>T	NCBI36
NG_050658.1:g.112680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.885G>A MANE Select	ENSP00000235521.4:p.Ala295=
ENST00000235521.4:c.885G>A	ENSP00000235521.4:p.Ala295=
ENST00000369426.9:c.*251G>A	ENSP00000358434.5:n.*251G>A
NM_015836.3:c.885G>A	NP_056651.1:p.Ala295=
NM_201263.2:c.*251G>A	NP_957715.1:n.*251G>A
XM_005270350.2:c.831G>A	XP_005270407.1:p.Ala277=
XM_006710283.1:c.603G>A	XP_006710346.1:p.Ala201=
XM_011540493.1:c.816G>A	XP_011538795.1:p.Ala272=
XM_011540494.1:c.816G>A	XP_011538796.1:p.Ala272=
XM_011540495.1:c.627G>A	XP_011538797.1:p.Ala209=
XM_005270350.3:c.831G>A	XP_005270407.1:p.Ala277=
XM_011540494.2:c.816G>A	XP_011538796.1:p.Ala272=
XM_011540495.2:c.627G>A	XP_011538797.1:p.Ala209=
XM_017000038.1:c.828G>A	XP_016855527.1:p.Ala276=
XM_017000039.1:c.816G>A	XP_016855528.1:p.Ala272=
XM_017000040.1:c.714G>A	XP_016855529.1:p.Ala238=
XM_017000041.2:c.546G>A	XP_016855530.1:p.Ala182=
XM_017000042.1:c.*220G>A	XP_016855531.1:n.*220G>A
XM_024449826.1:c.816G>A	XP_024305594.1:p.Ala272=
XM_024449860.1:c.603G>A	XP_024305628.1:p.Ala201=
XM_024449871.1:c.603G>A	XP_024305639.1:p.Ala201=
NM_001378226.1:c.816G>A	NP_001365155.1:p.Ala272=
NM_001378227.1:c.816G>A	NP_001365156.1:p.Ala272=
NM_001378228.1:c.714G>A	NP_001365157.1:p.Ala238=
NM_001378229.1:c.627G>A	NP_001365158.1:p.Ala209=
NM_001378230.1:c.603G>A	NP_001365159.1:p.Ala201=
NM_001378231.1:c.*220G>A	NP_001365160.1:n.*220G>A
NM_015836.4:c.885G>A MANE Select	NP_056651.1:p.Ala295=