Canonical Allele Identifier: CA341436722

Gene: WARS2

Linked Data

• gnomAD v4: 1-119033254-A-G
• MyVariant Identifiers: chr1:g.119575877A>G (hg19) ; chr1:g.119033254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033254A>G , CM000663.2:g.119033254A>G	GRCh38
NC_000001.10:g.119575877A>G , CM000663.1:g.119575877A>G	GRCh37
NC_000001.9:g.119377400A>G	NCBI36
NG_050658.1:g.112535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.740T>C MANE Select	ENSP00000235521.4:p.Ile247Thr
ENST00000235521.4:c.740T>C	ENSP00000235521.4:p.Ile247Thr
ENST00000369426.9:c.*106T>C	ENSP00000358434.5:n.*106T>C
NM_015836.3:c.740T>C	NP_056651.1:p.Ile247Thr
NM_201263.2:c.*106T>C	NP_957715.1:n.*106T>C
XM_005270350.2:c.686T>C	XP_005270407.1:p.Ile229Thr
XM_006710283.1:c.458T>C	XP_006710346.1:p.Ile153Thr
XM_011540493.1:c.671T>C	XP_011538795.1:p.Ile224Thr
XM_011540494.1:c.671T>C	XP_011538796.1:p.Ile224Thr
XM_011540495.1:c.482T>C	XP_011538797.1:p.Ile161Thr
XM_005270350.3:c.686T>C	XP_005270407.1:p.Ile229Thr
XM_011540494.2:c.671T>C	XP_011538796.1:p.Ile224Thr
XM_011540495.2:c.482T>C	XP_011538797.1:p.Ile161Thr
XM_017000038.1:c.683T>C	XP_016855527.1:p.Ile228Thr
XM_017000039.1:c.671T>C	XP_016855528.1:p.Ile224Thr
XM_017000040.1:c.569T>C	XP_016855529.1:p.Ile190Thr
XM_017000041.2:c.401T>C	XP_016855530.1:p.Ile134Thr
XM_017000042.1:c.*75T>C	XP_016855531.1:n.*75T>C
XM_024449826.1:c.671T>C	XP_024305594.1:p.Ile224Thr
XM_024449860.1:c.458T>C	XP_024305628.1:p.Ile153Thr
XM_024449871.1:c.458T>C	XP_024305639.1:p.Ile153Thr
NM_001378226.1:c.671T>C	NP_001365155.1:p.Ile224Thr
NM_001378227.1:c.671T>C	NP_001365156.1:p.Ile224Thr
NM_001378228.1:c.569T>C	NP_001365157.1:p.Ile190Thr
NM_001378229.1:c.482T>C	NP_001365158.1:p.Ile161Thr
NM_001378230.1:c.458T>C	NP_001365159.1:p.Ile153Thr
NM_001378231.1:c.*75T>C	NP_001365160.1:n.*75T>C
NM_015836.4:c.740T>C MANE Select	NP_056651.1:p.Ile247Thr