Canonical Allele Identifier: CA420192785

Gene: WARS2

Linked Data

• dbSNP Id: rs761297913
• gnomAD v2: 1-119575864-G-A
• gnomAD v4: 1-119033241-G-A
• COSMIC: COSM5984645
• MyVariant Identifiers: chr1:g.119575864G>A (hg19) ; chr1:g.119033241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033241G>A , CM000663.2:g.119033241G>A	GRCh38
NC_000001.10:g.119575864G>A , CM000663.1:g.119575864G>A	GRCh37
NC_000001.9:g.119377387G>A	NCBI36
NG_050658.1:g.112548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.753C>T MANE Select	ENSP00000235521.4:p.Phe251=
ENST00000235521.4:c.753C>T	ENSP00000235521.4:p.Phe251=
ENST00000369426.9:c.*119C>T	ENSP00000358434.5:n.*119C>T
NM_015836.3:c.753C>T	NP_056651.1:p.Phe251=
NM_201263.2:c.*119C>T	NP_957715.1:n.*119C>T
XM_005270350.2:c.699C>T	XP_005270407.1:p.Phe233=
XM_006710283.1:c.471C>T	XP_006710346.1:p.Phe157=
XM_011540493.1:c.684C>T	XP_011538795.1:p.Phe228=
XM_011540494.1:c.684C>T	XP_011538796.1:p.Phe228=
XM_011540495.1:c.495C>T	XP_011538797.1:p.Phe165=
XM_005270350.3:c.699C>T	XP_005270407.1:p.Phe233=
XM_011540494.2:c.684C>T	XP_011538796.1:p.Phe228=
XM_011540495.2:c.495C>T	XP_011538797.1:p.Phe165=
XM_017000038.1:c.696C>T	XP_016855527.1:p.Phe232=
XM_017000039.1:c.684C>T	XP_016855528.1:p.Phe228=
XM_017000040.1:c.582C>T	XP_016855529.1:p.Phe194=
XM_017000041.2:c.414C>T	XP_016855530.1:p.Phe138=
XM_017000042.1:c.*88C>T	XP_016855531.1:n.*88C>T
XM_024449826.1:c.684C>T	XP_024305594.1:p.Phe228=
XM_024449860.1:c.471C>T	XP_024305628.1:p.Phe157=
XM_024449871.1:c.471C>T	XP_024305639.1:p.Phe157=
NM_001378226.1:c.684C>T	NP_001365155.1:p.Phe228=
NM_001378227.1:c.684C>T	NP_001365156.1:p.Phe228=
NM_001378228.1:c.582C>T	NP_001365157.1:p.Phe194=
NM_001378229.1:c.495C>T	NP_001365158.1:p.Phe165=
NM_001378230.1:c.471C>T	NP_001365159.1:p.Phe157=
NM_001378231.1:c.*88C>T	NP_001365160.1:n.*88C>T
NM_015836.4:c.753C>T MANE Select	NP_056651.1:p.Phe251=