Canonical Allele Identifier: CA361198238

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075387G>C (hg19) ; chr5:g.140695802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695802G>C , CM000667.2:g.140695802G>C	GRCh38
NC_000005.9:g.140075387G>C , CM000667.1:g.140075387G>C	GRCh37
NC_000005.8:g.140055571G>C	NCBI36
NG_021415.1:g.9370G>C
NG_032158.1:g.585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.590G>C MANE Select	ENSP00000230771.3:p.Cys197Ser
ENST00000503873.6:c.368G>C	ENSP00000424516.2:p.Cys123Ser
ENST00000509299.6:c.380G>C	ENSP00000425695.2:p.Cys127Ser
ENST00000520095.6:c.*168G>C	ENSP00000429220.1:n.*168G>C
ENST00000642452.1:c.556G>C
ENST00000642752.1:c.590G>C	ENSP00000493630.1:p.Cys197Ser
ENST00000642970.1:c.380G>C	ENSP00000496011.1:p.Cys127Ser
ENST00000643996.1:c.380G>C	ENSP00000495350.1:p.Cys127Ser
ENST00000645065.1:c.608G>C	ENSP00000493571.1:p.Cys203Ser
ENST00000645749.1:c.590G>C	ENSP00000494296.1:p.Cys197Ser
ENST00000646468.1:c.608G>C	ENSP00000494965.1:p.Cys203Ser
ENST00000647484.1:c.380G>C	ENSP00000494140.1:p.Cys127Ser
ENST00000230771.7:c.590G>C	ENSP00000230771.3:p.Cys197Ser
ENST00000448069.2:c.173G>C	ENSP00000407105.2:p.Cys58Ser
ENST00000508522.5:c.515G>C	ENSP00000423616.1:p.Cys172Ser
ENST00000510104.5:c.*390G>C	ENSP00000423530.1:n.*390G>C
ENST00000513688.1:n.597G>C
NM_001278731.1:c.515G>C	NP_001265660.1:p.Cys172Ser
NM_001278732.1:c.158G>C	NP_001265661.1:p.Cys53Ser
NM_012208.3:c.590G>C	NP_036340.1:p.Cys197Ser
XM_011537619.1:c.608G>C	XP_011535921.1:p.Cys203Ser
XM_011537620.1:c.608G>C	XP_011535922.1:p.Cys203Ser
NM_001363535.1:c.608G>C	NP_001350464.1:p.Cys203Ser
NM_001363536.1:c.380G>C	NP_001350465.1:p.Cys127Ser
XM_017009288.1:c.380G>C	XP_016864777.1:p.Cys127Ser
XM_017009289.1:c.380G>C	XP_016864778.1:p.Cys127Ser
XM_017009290.2:c.-145G>C	XP_016864779.1:n.-145G>C
XM_017009291.1:c.-145G>C	XP_016864780.1:n.-145G>C
XM_017009292.1:c.-145G>C	XP_016864781.1:n.-145G>C
NM_012208.4:c.590G>C MANE Select	NP_036340.1:p.Cys197Ser
NM_001278731.2:c.515G>C	NP_001265660.1:p.Cys172Ser
NM_001278732.2:c.158G>C	NP_001265661.1:p.Cys53Ser
NM_001363535.2:c.608G>C	NP_001350464.1:p.Cys203Ser
NM_001363536.2:c.380G>C	NP_001350465.1:p.Cys127Ser