Canonical Allele Identifier: CA361197645

Gene: HARS2

Linked Data

• ClinVar Variation Id: 1438891
• ClinVar RCV Id: RCV001949096
• dbSNP Id: rs2149854254
• MyVariant Identifiers: chr5:g.140075190A>G (hg19) ; chr5:g.140695605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695605A>G , CM000667.2:g.140695605A>G	GRCh38
NC_000005.9:g.140075190A>G , CM000667.1:g.140075190A>G	GRCh37
NC_000005.8:g.140055374A>G	NCBI36
NG_021415.1:g.9173A>G
NG_032158.1:g.782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.497A>G MANE Select	ENSP00000230771.3:p.Gln166Arg
ENST00000503873.6:c.304-133A>G	ENSP00000424516.2:n.304-133A>G
ENST00000509299.6:c.287A>G	ENSP00000425695.2:p.Gln96Arg
ENST00000520095.6:c.*104-133A>G	ENSP00000429220.1:n.*104-133A>G
ENST00000642452.1:c.463A>G
ENST00000642752.1:c.497A>G	ENSP00000493630.1:p.Gln166Arg
ENST00000642970.1:c.287A>G	ENSP00000496011.1:p.Gln96Arg
ENST00000643996.1:c.287A>G	ENSP00000495350.1:p.Gln96Arg
ENST00000645065.1:c.515A>G	ENSP00000493571.1:p.Gln172Arg
ENST00000645749.1:c.497A>G	ENSP00000494296.1:p.Gln166Arg
ENST00000646468.1:c.515A>G	ENSP00000494965.1:p.Gln172Arg
ENST00000647484.1:c.287A>G	ENSP00000494140.1:p.Gln96Arg
ENST00000230771.7:c.497A>G	ENSP00000230771.3:p.Gln166Arg
ENST00000448069.2:c.109-133A>G	ENSP00000407105.2:n.109-133A>G
ENST00000508522.5:c.422A>G	ENSP00000423616.1:p.Gln141Arg
ENST00000509299.5:c.515A>G	ENSP00000425695.1:p.Gln172Arg
ENST00000510104.5:c.*297A>G	ENSP00000423530.1:n.*297A>G
ENST00000513688.1:n.504A>G
ENST00000520095.5:c.*104-133A>G	ENSP00000429220.1:n.*104-133A>G
NM_001278731.1:c.422A>G	NP_001265660.1:p.Gln141Arg
NM_001278732.1:c.94-133A>G	NP_001265661.1:n.94-133A>G
NM_012208.3:c.497A>G	NP_036340.1:p.Gln166Arg
XM_011537619.1:c.515A>G	XP_011535921.1:p.Gln172Arg
XM_011537620.1:c.515A>G	XP_011535922.1:p.Gln172Arg
NM_001363535.1:c.515A>G	NP_001350464.1:p.Gln172Arg
NM_001363536.1:c.287A>G	NP_001350465.1:p.Gln96Arg
XM_017009288.1:c.287A>G	XP_016864777.1:p.Gln96Arg
XM_017009289.1:c.287A>G	XP_016864778.1:p.Gln96Arg
XM_017009290.2:c.-238A>G	XP_016864779.1:n.-238A>G
XM_017009291.1:c.-238A>G	XP_016864780.1:n.-238A>G
XM_017009292.1:c.-238A>G	XP_016864781.1:n.-238A>G
NM_012208.4:c.497A>G MANE Select	NP_036340.1:p.Gln166Arg
NM_001278731.2:c.422A>G	NP_001265660.1:p.Gln141Arg
NM_001278732.2:c.94-133A>G	NP_001265661.1:n.94-133A>G
NM_001363535.2:c.515A>G	NP_001350464.1:p.Gln172Arg
NM_001363536.2:c.287A>G	NP_001350465.1:p.Gln96Arg