Canonical Allele Identifier: CA420192451
Gene: WARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1647578158
COSMIC: COSM235566
MyVariant Identifiers: chr1:g.119575762G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119033139G>A , CM000663.2:g.119033139G>A GRCh38
NC_000001.10:g.119575762G>A , CM000663.1:g.119575762G>A GRCh37
NC_000001.9:g.119377285G>A NCBI36
NG_050658.1:g.112650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000235521.5:c.855C>T MANE Select ENSP00000235521.4:p.Leu285=
ENST00000235521.4:c.855C>T ENSP00000235521.4:p.Leu285=
ENST00000369426.9:c.*221C>T ENSP00000358434.5:n.*221C>T
NM_015836.3:c.855C>T NP_056651.1:p.Leu285=
NM_201263.2:c.*221C>T NP_957715.1:n.*221C>T
XM_005270350.2:c.801C>T XP_005270407.1:p.Leu267=
XM_006710283.1:c.573C>T XP_006710346.1:p.Leu191=
XM_011540493.1:c.786C>T XP_011538795.1:p.Leu262=
XM_011540494.1:c.786C>T XP_011538796.1:p.Leu262=
XM_011540495.1:c.597C>T XP_011538797.1:p.Leu199=
XM_005270350.3:c.801C>T XP_005270407.1:p.Leu267=
XM_011540494.2:c.786C>T XP_011538796.1:p.Leu262=
XM_011540495.2:c.597C>T XP_011538797.1:p.Leu199=
XM_017000038.1:c.798C>T XP_016855527.1:p.Leu266=
XM_017000039.1:c.786C>T XP_016855528.1:p.Leu262=
XM_017000040.1:c.684C>T XP_016855529.1:p.Leu228=
XM_017000041.2:c.516C>T XP_016855530.1:p.Leu172=
XM_017000042.1:c.*190C>T XP_016855531.1:n.*190C>T
XM_024449826.1:c.786C>T XP_024305594.1:p.Leu262=
XM_024449860.1:c.573C>T XP_024305628.1:p.Leu191=
XM_024449871.1:c.573C>T XP_024305639.1:p.Leu191=
NM_001378226.1:c.786C>T NP_001365155.1:p.Leu262=
NM_001378227.1:c.786C>T NP_001365156.1:p.Leu262=
NM_001378228.1:c.684C>T NP_001365157.1:p.Leu228=
NM_001378229.1:c.597C>T NP_001365158.1:p.Leu199=
NM_001378230.1:c.573C>T NP_001365159.1:p.Leu191=
NM_001378231.1:c.*190C>T NP_001365160.1:n.*190C>T
NM_015836.4:c.855C>T MANE Select NP_056651.1:p.Leu285=