Canonical Allele Identifier: CA361198235

Gene: HARS2

Linked Data

• dbSNP Id: rs1759719283
• gnomAD v3: 5-140695801-T-G
• gnomAD v4: 5-140695801-T-G
• MyVariant Identifiers: chr5:g.140075386T>G (hg19) ; chr5:g.140695801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695801T>G , CM000667.2:g.140695801T>G	GRCh38
NC_000005.9:g.140075386T>G , CM000667.1:g.140075386T>G	GRCh37
NC_000005.8:g.140055570T>G	NCBI36
NG_021415.1:g.9369T>G
NG_032158.1:g.586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.589T>G MANE Select	ENSP00000230771.3:p.Cys197Gly
ENST00000503873.6:c.367T>G	ENSP00000424516.2:p.Cys123Gly
ENST00000509299.6:c.379T>G	ENSP00000425695.2:p.Cys127Gly
ENST00000520095.6:c.*167T>G	ENSP00000429220.1:n.*167T>G
ENST00000642452.1:c.555T>G
ENST00000642752.1:c.589T>G	ENSP00000493630.1:p.Cys197Gly
ENST00000642970.1:c.379T>G	ENSP00000496011.1:p.Cys127Gly
ENST00000643996.1:c.379T>G	ENSP00000495350.1:p.Cys127Gly
ENST00000645065.1:c.607T>G	ENSP00000493571.1:p.Cys203Gly
ENST00000645749.1:c.589T>G	ENSP00000494296.1:p.Cys197Gly
ENST00000646468.1:c.607T>G	ENSP00000494965.1:p.Cys203Gly
ENST00000647484.1:c.379T>G	ENSP00000494140.1:p.Cys127Gly
ENST00000230771.7:c.589T>G	ENSP00000230771.3:p.Cys197Gly
ENST00000448069.2:c.172T>G	ENSP00000407105.2:p.Cys58Gly
ENST00000508522.5:c.514T>G	ENSP00000423616.1:p.Cys172Gly
ENST00000510104.5:c.*389T>G	ENSP00000423530.1:n.*389T>G
ENST00000513688.1:n.596T>G
NM_001278731.1:c.514T>G	NP_001265660.1:p.Cys172Gly
NM_001278732.1:c.157T>G	NP_001265661.1:p.Cys53Gly
NM_012208.3:c.589T>G	NP_036340.1:p.Cys197Gly
XM_011537619.1:c.607T>G	XP_011535921.1:p.Cys203Gly
XM_011537620.1:c.607T>G	XP_011535922.1:p.Cys203Gly
NM_001363535.1:c.607T>G	NP_001350464.1:p.Cys203Gly
NM_001363536.1:c.379T>G	NP_001350465.1:p.Cys127Gly
XM_017009288.1:c.379T>G	XP_016864777.1:p.Cys127Gly
XM_017009289.1:c.379T>G	XP_016864778.1:p.Cys127Gly
XM_017009290.2:c.-146T>G	XP_016864779.1:n.-146T>G
XM_017009291.1:c.-146T>G	XP_016864780.1:n.-146T>G
XM_017009292.1:c.-146T>G	XP_016864781.1:n.-146T>G
NM_012208.4:c.589T>G MANE Select	NP_036340.1:p.Cys197Gly
NM_001278731.2:c.514T>G	NP_001265660.1:p.Cys172Gly
NM_001278732.2:c.157T>G	NP_001265661.1:p.Cys53Gly
NM_001363535.2:c.607T>G	NP_001350464.1:p.Cys203Gly
NM_001363536.2:c.379T>G	NP_001350465.1:p.Cys127Gly