Canonical Allele Identifier: CA321856
Gene: HARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214542
dbSNP Id: rs201392711

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140693654A>G , CM000667.2:g.140693654A>G GRCh38
NC_000005.9:g.140073239A>G , CM000667.1:g.140073239A>G GRCh37
NC_000005.8:g.140053423A>G NCBI36
NG_021415.1:g.7222A>G
NG_032158.1:g.2733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230771.9:c.172A>G MANE Select ENSP00000230771.3:p.Lys58Glu
ENST00000503873.6:c.172A>G ENSP00000424516.2:p.Lys58Glu
ENST00000509299.6:c.-39A>G ENSP00000425695.2:n.-39A>G
ENST00000520095.6:c.272A>G ENSP00000429220.1:p.Gln91Arg
ENST00000642452.1:c.138A>G
ENST00000642752.1:c.172A>G ENSP00000493630.1:p.Lys58Glu
ENST00000642970.1:c.-39A>G ENSP00000496011.1:n.-39A>G
ENST00000643996.1:c.-39A>G ENSP00000495350.1:n.-39A>G
ENST00000645065.1:c.190A>G ENSP00000493571.1:p.Lys64Glu
ENST00000645749.1:c.172A>G ENSP00000494296.1:p.Lys58Glu
ENST00000646468.1:c.190A>G ENSP00000494965.1:p.Lys64Glu
ENST00000647484.1:c.-39A>G ENSP00000494140.1:n.-39A>G
ENST00000230771.7:c.172A>G ENSP00000230771.3:p.Lys58Glu
ENST00000448069.2:c.108+1898A>G ENSP00000407105.2:n.108+1898A>G
ENST00000502303.5:n.255A>G
ENST00000503873.5:c.190A>G ENSP00000424516.1:p.Lys64Glu
ENST00000506318.1:n.519A>G
ENST00000508522.5:c.109-281A>G ENSP00000423616.1:n.109-281A>G
ENST00000509299.5:c.190A>G ENSP00000425695.1:p.Lys64Glu
ENST00000510104.5:c.272A>G ENSP00000423530.1:p.Gln91Arg
ENST00000511913.5:n.348A>G
ENST00000513688.1:n.179A>G
ENST00000513912.1:n.407A>G
ENST00000520095.5:c.272A>G ENSP00000429220.1:p.Gln91Arg
NM_001278731.1:c.109-281A>G NP_001265660.1:n.109-281A>G
NM_001278732.1:c.-39A>G NP_001265661.1:n.-39A>G
NM_012208.3:c.172A>G NP_036340.1:p.Lys58Glu
XM_011537619.1:c.190A>G XP_011535921.1:p.Lys64Glu
XM_011537620.1:c.190A>G XP_011535922.1:p.Lys64Glu
NM_001363535.1:c.190A>G NP_001350464.1:p.Lys64Glu
NM_001363536.1:c.-39A>G NP_001350465.1:n.-39A>G
XM_017009288.1:c.-39A>G XP_016864777.1:n.-39A>G
XM_017009289.1:c.-39A>G XP_016864778.1:n.-39A>G
XM_017009290.2:c.-563A>G XP_016864779.1:n.-563A>G
XM_017009291.1:c.-563A>G XP_016864780.1:n.-563A>G
XM_017009292.1:c.-563A>G XP_016864781.1:n.-563A>G
NM_012208.4:c.172A>G MANE Select NP_036340.1:p.Lys58Glu
NM_001278731.2:c.109-281A>G NP_001265660.1:n.109-281A>G
NM_001278732.2:c.-39A>G NP_001265661.1:n.-39A>G
NM_001363535.2:c.190A>G NP_001350464.1:p.Lys64Glu
NM_001363536.2:c.-39A>G NP_001350465.1:n.-39A>G