Canonical Allele Identifier: CA446804402

Gene: HARS2

Linked Data

• dbSNP Id: rs1356579261
• gnomAD v2: 5-140075370-G-A
• gnomAD v3: 5-140695785-G-A
• gnomAD v4: 5-140695785-G-A
• MyVariant Identifiers: chr5:g.140075370G>A (hg19) ; chr5:g.140695785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695785G>A , CM000667.2:g.140695785G>A	GRCh38
NC_000005.9:g.140075370G>A , CM000667.1:g.140075370G>A	GRCh37
NC_000005.8:g.140055554G>A	NCBI36
NG_021415.1:g.9353G>A
NG_032158.1:g.602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.573G>A MANE Select	ENSP00000230771.3:p.Glu191=
ENST00000503873.6:c.351G>A	ENSP00000424516.2:p.Glu117=
ENST00000509299.6:c.363G>A	ENSP00000425695.2:p.Glu121=
ENST00000520095.6:c.*151G>A	ENSP00000429220.1:n.*151G>A
ENST00000642452.1:c.539G>A
ENST00000642752.1:c.573G>A	ENSP00000493630.1:p.Glu191=
ENST00000642970.1:c.363G>A	ENSP00000496011.1:p.Glu121=
ENST00000643996.1:c.363G>A	ENSP00000495350.1:p.Glu121=
ENST00000645065.1:c.591G>A	ENSP00000493571.1:p.Glu197=
ENST00000645749.1:c.573G>A	ENSP00000494296.1:p.Glu191=
ENST00000646468.1:c.591G>A	ENSP00000494965.1:p.Glu197=
ENST00000647484.1:c.363G>A	ENSP00000494140.1:p.Glu121=
ENST00000230771.7:c.573G>A	ENSP00000230771.3:p.Glu191=
ENST00000448069.2:c.156G>A	ENSP00000407105.2:p.Glu52=
ENST00000508522.5:c.498G>A	ENSP00000423616.1:p.Glu166=
ENST00000510104.5:c.*373G>A	ENSP00000423530.1:n.*373G>A
ENST00000513688.1:n.580G>A
NM_001278731.1:c.498G>A	NP_001265660.1:p.Glu166=
NM_001278732.1:c.141G>A	NP_001265661.1:p.Glu47=
NM_012208.3:c.573G>A	NP_036340.1:p.Glu191=
XM_011537619.1:c.591G>A	XP_011535921.1:p.Glu197=
XM_011537620.1:c.591G>A	XP_011535922.1:p.Glu197=
NM_001363535.1:c.591G>A	NP_001350464.1:p.Glu197=
NM_001363536.1:c.363G>A	NP_001350465.1:p.Glu121=
XM_017009288.1:c.363G>A	XP_016864777.1:p.Glu121=
XM_017009289.1:c.363G>A	XP_016864778.1:p.Glu121=
XM_017009290.2:c.-162G>A	XP_016864779.1:n.-162G>A
XM_017009291.1:c.-162G>A	XP_016864780.1:n.-162G>A
XM_017009292.1:c.-162G>A	XP_016864781.1:n.-162G>A
NM_012208.4:c.573G>A MANE Select	NP_036340.1:p.Glu191=
NM_001278731.2:c.498G>A	NP_001265660.1:p.Glu166=
NM_001278732.2:c.141G>A	NP_001265661.1:p.Glu47=
NM_001363535.2:c.591G>A	NP_001350464.1:p.Glu197=
NM_001363536.2:c.363G>A	NP_001350465.1:p.Glu121=