Canonical Allele Identifier: CA1035227

Gene: WARS2

Linked Data

• dbSNP Id: rs763394894
• ExAC: 1:119575873 C / T
• gnomAD v4: 1-119033250-C-T
• MyVariant Identifiers: chr1:g.119575873C>T (hg19) ; chr1:g.119033250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033250C>T , CM000663.2:g.119033250C>T	GRCh38
NC_000001.10:g.119575873C>T , CM000663.1:g.119575873C>T	GRCh37
NC_000001.9:g.119377396C>T	NCBI36
NG_050658.1:g.112539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.744G>A MANE Select	ENSP00000235521.4:p.Val248=
ENST00000235521.4:c.744G>A	ENSP00000235521.4:p.Val248=
ENST00000369426.9:c.*110G>A	ENSP00000358434.5:n.*110G>A
NM_015836.3:c.744G>A	NP_056651.1:p.Val248=
NM_201263.2:c.*110G>A	NP_957715.1:n.*110G>A
XM_005270350.2:c.690G>A	XP_005270407.1:p.Val230=
XM_006710283.1:c.462G>A	XP_006710346.1:p.Val154=
XM_011540493.1:c.675G>A	XP_011538795.1:p.Val225=
XM_011540494.1:c.675G>A	XP_011538796.1:p.Val225=
XM_011540495.1:c.486G>A	XP_011538797.1:p.Val162=
XM_005270350.3:c.690G>A	XP_005270407.1:p.Val230=
XM_011540494.2:c.675G>A	XP_011538796.1:p.Val225=
XM_011540495.2:c.486G>A	XP_011538797.1:p.Val162=
XM_017000038.1:c.687G>A	XP_016855527.1:p.Val229=
XM_017000039.1:c.675G>A	XP_016855528.1:p.Val225=
XM_017000040.1:c.573G>A	XP_016855529.1:p.Val191=
XM_017000041.2:c.405G>A	XP_016855530.1:p.Val135=
XM_017000042.1:c.*79G>A	XP_016855531.1:n.*79G>A
XM_024449826.1:c.675G>A	XP_024305594.1:p.Val225=
XM_024449860.1:c.462G>A	XP_024305628.1:p.Val154=
XM_024449871.1:c.462G>A	XP_024305639.1:p.Val154=
NM_001378226.1:c.675G>A	NP_001365155.1:p.Val225=
NM_001378227.1:c.675G>A	NP_001365156.1:p.Val225=
NM_001378228.1:c.573G>A	NP_001365157.1:p.Val191=
NM_001378229.1:c.486G>A	NP_001365158.1:p.Val162=
NM_001378230.1:c.462G>A	NP_001365159.1:p.Val154=
NM_001378231.1:c.*79G>A	NP_001365160.1:n.*79G>A
NM_015836.4:c.744G>A MANE Select	NP_056651.1:p.Val248=