Canonical Allele Identifier: CA341436774

Gene: WARS2

Linked Data

• dbSNP Id: rs1647597140
• gnomAD v4: 1-119033276-T-C
• MyVariant Identifiers: chr1:g.119575899T>C (hg19) ; chr1:g.119033276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033276T>C , CM000663.2:g.119033276T>C	GRCh38
NC_000001.10:g.119575899T>C , CM000663.1:g.119575899T>C	GRCh37
NC_000001.9:g.119377422T>C	NCBI36
NG_050658.1:g.112513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.718A>G MANE Select	ENSP00000235521.4:p.Ile240Val
ENST00000235521.4:c.718A>G	ENSP00000235521.4:p.Ile240Val
ENST00000369426.9:c.*84A>G	ENSP00000358434.5:n.*84A>G
NM_015836.3:c.718A>G	NP_056651.1:p.Ile240Val
NM_201263.2:c.*84A>G	NP_957715.1:n.*84A>G
XM_005270350.2:c.664A>G	XP_005270407.1:p.Ile222Val
XM_006710283.1:c.436A>G	XP_006710346.1:p.Ile146Val
XM_011540493.1:c.649A>G	XP_011538795.1:p.Ile217Val
XM_011540494.1:c.649A>G	XP_011538796.1:p.Ile217Val
XM_011540495.1:c.460A>G	XP_011538797.1:p.Ile154Val
XM_005270350.3:c.664A>G	XP_005270407.1:p.Ile222Val
XM_011540494.2:c.649A>G	XP_011538796.1:p.Ile217Val
XM_011540495.2:c.460A>G	XP_011538797.1:p.Ile154Val
XM_017000038.1:c.661A>G	XP_016855527.1:p.Ile221Val
XM_017000039.1:c.649A>G	XP_016855528.1:p.Ile217Val
XM_017000040.1:c.547A>G	XP_016855529.1:p.Ile183Val
XM_017000041.2:c.379A>G	XP_016855530.1:p.Ile127Val
XM_017000042.1:c.*53A>G	XP_016855531.1:n.*53A>G
XM_024449826.1:c.649A>G	XP_024305594.1:p.Ile217Val
XM_024449860.1:c.436A>G	XP_024305628.1:p.Ile146Val
XM_024449871.1:c.436A>G	XP_024305639.1:p.Ile146Val
NM_001378226.1:c.649A>G	NP_001365155.1:p.Ile217Val
NM_001378227.1:c.649A>G	NP_001365156.1:p.Ile217Val
NM_001378228.1:c.547A>G	NP_001365157.1:p.Ile183Val
NM_001378229.1:c.460A>G	NP_001365158.1:p.Ile154Val
NM_001378230.1:c.436A>G	NP_001365159.1:p.Ile146Val
NM_001378231.1:c.*53A>G	NP_001365160.1:n.*53A>G
NM_015836.4:c.718A>G MANE Select	NP_056651.1:p.Ile240Val