Canonical Allele Identifier: CA446804432

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695588-G-A
• MyVariant Identifiers: chr5:g.140075173G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695588G>A , CM000667.2:g.140695588G>A	GRCh38
NC_000005.9:g.140075173G>A , CM000667.1:g.140075173G>A	GRCh37
NC_000005.8:g.140055357G>A	NCBI36
NG_021415.1:g.9156G>A
NG_032158.1:g.799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.480G>A MANE Select	ENSP00000230771.3:p.Glu160=
ENST00000503873.6:c.304-150G>A	ENSP00000424516.2:n.304-150G>A
ENST00000509299.6:c.270G>A	ENSP00000425695.2:p.Glu90=
ENST00000520095.6:c.*104-150G>A	ENSP00000429220.1:n.*104-150G>A
ENST00000642452.1:c.446G>A
ENST00000642752.1:c.480G>A	ENSP00000493630.1:p.Glu160=
ENST00000642970.1:c.270G>A	ENSP00000496011.1:p.Glu90=
ENST00000643996.1:c.270G>A	ENSP00000495350.1:p.Glu90=
ENST00000645065.1:c.498G>A	ENSP00000493571.1:p.Glu166=
ENST00000645749.1:c.480G>A	ENSP00000494296.1:p.Glu160=
ENST00000646468.1:c.498G>A	ENSP00000494965.1:p.Glu166=
ENST00000647484.1:c.270G>A	ENSP00000494140.1:p.Glu90=
ENST00000230771.7:c.480G>A	ENSP00000230771.3:p.Glu160=
ENST00000448069.2:c.109-150G>A	ENSP00000407105.2:n.109-150G>A
ENST00000508522.5:c.405G>A	ENSP00000423616.1:p.Glu135=
ENST00000509299.5:c.498G>A	ENSP00000425695.1:p.Glu166=
ENST00000510104.5:c.*280G>A	ENSP00000423530.1:n.*280G>A
ENST00000513688.1:n.487G>A
ENST00000520095.5:c.*104-150G>A	ENSP00000429220.1:n.*104-150G>A
NM_001278731.1:c.405G>A	NP_001265660.1:p.Glu135=
NM_001278732.1:c.94-150G>A	NP_001265661.1:n.94-150G>A
NM_012208.3:c.480G>A	NP_036340.1:p.Glu160=
XM_011537619.1:c.498G>A	XP_011535921.1:p.Glu166=
XM_011537620.1:c.498G>A	XP_011535922.1:p.Glu166=
NM_001363535.1:c.498G>A	NP_001350464.1:p.Glu166=
NM_001363536.1:c.270G>A	NP_001350465.1:p.Glu90=
XM_017009288.1:c.270G>A	XP_016864777.1:p.Glu90=
XM_017009289.1:c.270G>A	XP_016864778.1:p.Glu90=
XM_017009290.2:c.-255G>A	XP_016864779.1:n.-255G>A
XM_017009291.1:c.-255G>A	XP_016864780.1:n.-255G>A
XM_017009292.1:c.-255G>A	XP_016864781.1:n.-255G>A
NM_012208.4:c.480G>A MANE Select	NP_036340.1:p.Glu160=
NM_001278731.2:c.405G>A	NP_001265660.1:p.Glu135=
NM_001278732.2:c.94-150G>A	NP_001265661.1:n.94-150G>A
NM_001363535.2:c.498G>A	NP_001350464.1:p.Glu166=
NM_001363536.2:c.270G>A	NP_001350465.1:p.Glu90=