Canonical Allele Identifier: CA341436719

Gene: WARS2

Linked Data

• MyVariant Identifiers: chr1:g.119575875C>G (hg19) ; chr1:g.119033252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033252C>G , CM000663.2:g.119033252C>G	GRCh38
NC_000001.10:g.119575875C>G , CM000663.1:g.119575875C>G	GRCh37
NC_000001.9:g.119377398C>G	NCBI36
NG_050658.1:g.112537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.742G>C MANE Select	ENSP00000235521.4:p.Val248Leu
ENST00000235521.4:c.742G>C	ENSP00000235521.4:p.Val248Leu
ENST00000369426.9:c.*108G>C	ENSP00000358434.5:n.*108G>C
NM_015836.3:c.742G>C	NP_056651.1:p.Val248Leu
NM_201263.2:c.*108G>C	NP_957715.1:n.*108G>C
XM_005270350.2:c.688G>C	XP_005270407.1:p.Val230Leu
XM_006710283.1:c.460G>C	XP_006710346.1:p.Val154Leu
XM_011540493.1:c.673G>C	XP_011538795.1:p.Val225Leu
XM_011540494.1:c.673G>C	XP_011538796.1:p.Val225Leu
XM_011540495.1:c.484G>C	XP_011538797.1:p.Val162Leu
XM_005270350.3:c.688G>C	XP_005270407.1:p.Val230Leu
XM_011540494.2:c.673G>C	XP_011538796.1:p.Val225Leu
XM_011540495.2:c.484G>C	XP_011538797.1:p.Val162Leu
XM_017000038.1:c.685G>C	XP_016855527.1:p.Val229Leu
XM_017000039.1:c.673G>C	XP_016855528.1:p.Val225Leu
XM_017000040.1:c.571G>C	XP_016855529.1:p.Val191Leu
XM_017000041.2:c.403G>C	XP_016855530.1:p.Val135Leu
XM_017000042.1:c.*77G>C	XP_016855531.1:n.*77G>C
XM_024449826.1:c.673G>C	XP_024305594.1:p.Val225Leu
XM_024449860.1:c.460G>C	XP_024305628.1:p.Val154Leu
XM_024449871.1:c.460G>C	XP_024305639.1:p.Val154Leu
NM_001378226.1:c.673G>C	NP_001365155.1:p.Val225Leu
NM_001378227.1:c.673G>C	NP_001365156.1:p.Val225Leu
NM_001378228.1:c.571G>C	NP_001365157.1:p.Val191Leu
NM_001378229.1:c.484G>C	NP_001365158.1:p.Val162Leu
NM_001378230.1:c.460G>C	NP_001365159.1:p.Val154Leu
NM_001378231.1:c.*77G>C	NP_001365160.1:n.*77G>C
NM_015836.4:c.742G>C MANE Select	NP_056651.1:p.Val248Leu