Canonical Allele Identifier: CA30376557

Gene: WARS2

Linked Data

• ClinVar Variation Id: 2543701
• ClinVar RCV Id: RCV003267327
• dbSNP Id: rs374026714
• gnomAD v2: 1-119575740-G-A
• gnomAD v3: 1-119033117-G-A
• gnomAD v4: 1-119033117-G-A
• MyVariant Identifiers: chr1:g.119575740G>A (hg19) ; chr1:g.119033117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033117G>A , CM000663.2:g.119033117G>A	GRCh38
NC_000001.10:g.119575740G>A , CM000663.1:g.119575740G>A	GRCh37
NC_000001.9:g.119377263G>A	NCBI36
NG_050658.1:g.112672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.877C>T MANE Select	ENSP00000235521.4:p.Arg293Cys
ENST00000235521.4:c.877C>T	ENSP00000235521.4:p.Arg293Cys
ENST00000369426.9:c.*243C>T	ENSP00000358434.5:n.*243C>T
NM_015836.3:c.877C>T	NP_056651.1:p.Arg293Cys
NM_201263.2:c.*243C>T	NP_957715.1:n.*243C>T
XM_005270350.2:c.823C>T	XP_005270407.1:p.Arg275Cys
XM_006710283.1:c.595C>T	XP_006710346.1:p.Arg199Cys
XM_011540493.1:c.808C>T	XP_011538795.1:p.Arg270Cys
XM_011540494.1:c.808C>T	XP_011538796.1:p.Arg270Cys
XM_011540495.1:c.619C>T	XP_011538797.1:p.Arg207Cys
XM_005270350.3:c.823C>T	XP_005270407.1:p.Arg275Cys
XM_011540494.2:c.808C>T	XP_011538796.1:p.Arg270Cys
XM_011540495.2:c.619C>T	XP_011538797.1:p.Arg207Cys
XM_017000038.1:c.820C>T	XP_016855527.1:p.Arg274Cys
XM_017000039.1:c.808C>T	XP_016855528.1:p.Arg270Cys
XM_017000040.1:c.706C>T	XP_016855529.1:p.Arg236Cys
XM_017000041.2:c.538C>T	XP_016855530.1:p.Arg180Cys
XM_017000042.1:c.*212C>T	XP_016855531.1:n.*212C>T
XM_024449826.1:c.808C>T	XP_024305594.1:p.Arg270Cys
XM_024449860.1:c.595C>T	XP_024305628.1:p.Arg199Cys
XM_024449871.1:c.595C>T	XP_024305639.1:p.Arg199Cys
NM_001378226.1:c.808C>T	NP_001365155.1:p.Arg270Cys
NM_001378227.1:c.808C>T	NP_001365156.1:p.Arg270Cys
NM_001378228.1:c.706C>T	NP_001365157.1:p.Arg236Cys
NM_001378229.1:c.619C>T	NP_001365158.1:p.Arg207Cys
NM_001378230.1:c.595C>T	NP_001365159.1:p.Arg199Cys
NM_001378231.1:c.*212C>T	NP_001365160.1:n.*212C>T
NM_015836.4:c.877C>T MANE Select	NP_056651.1:p.Arg293Cys