Canonical Allele Identifier: CA2739275114

Gene: HARS2

Linked Data

• ClinVar Variation Id: 2909412
• ClinVar RCV Id: RCV003732231

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695642C>A , CM000667.2:g.140695642C>A	GRCh38
NC_000005.9:g.140075227C>A , CM000667.1:g.140075227C>A	GRCh37
NC_000005.8:g.140055411C>A	NCBI36
NG_021415.1:g.9210C>A
NG_032158.1:g.745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.525+9C>A MANE Select	ENSP00000230771.3:n.525+9C>A
ENST00000503873.6:c.304-96C>A	ENSP00000424516.2:n.304-96C>A
ENST00000509299.6:c.315+9C>A	ENSP00000425695.2:n.315+9C>A
ENST00000520095.6:c.*104-96C>A	ENSP00000429220.1:n.*104-96C>A
ENST00000642452.1:c.491+9C>A
ENST00000642752.1:c.525+9C>A	ENSP00000493630.1:n.525+9C>A
ENST00000642970.1:c.315+9C>A	ENSP00000496011.1:n.315+9C>A
ENST00000643996.1:c.315+9C>A	ENSP00000495350.1:n.315+9C>A
ENST00000645065.1:c.543+9C>A	ENSP00000493571.1:n.543+9C>A
ENST00000645749.1:c.525+9C>A	ENSP00000494296.1:n.525+9C>A
ENST00000646468.1:c.543+9C>A	ENSP00000494965.1:n.543+9C>A
ENST00000647484.1:c.315+9C>A	ENSP00000494140.1:n.315+9C>A
ENST00000230771.7:c.525+9C>A	ENSP00000230771.3:n.525+9C>A
ENST00000448069.2:c.109-96C>A	ENSP00000407105.2:n.109-96C>A
ENST00000508522.5:c.450+9C>A	ENSP00000423616.1:n.450+9C>A
ENST00000510104.5:c.*325+9C>A	ENSP00000423530.1:n.*325+9C>A
ENST00000513688.1:n.532+9C>A
ENST00000520095.5:c.*104-96C>A	ENSP00000429220.1:n.*104-96C>A
NM_001278731.1:c.450+9C>A	NP_001265660.1:n.450+9C>A
NM_001278732.1:c.94-96C>A	NP_001265661.1:n.94-96C>A
NM_012208.3:c.525+9C>A	NP_036340.1:n.525+9C>A
XM_011537619.1:c.543+9C>A	XP_011535921.1:n.543+9C>A
XM_011537620.1:c.543+9C>A	XP_011535922.1:n.543+9C>A
NM_001363535.1:c.543+9C>A	NP_001350464.1:n.543+9C>A
NM_001363536.1:c.315+9C>A	NP_001350465.1:n.315+9C>A
XM_017009288.1:c.315+9C>A	XP_016864777.1:n.315+9C>A
XM_017009289.1:c.315+9C>A	XP_016864778.1:n.315+9C>A
XM_017009290.2:c.-210+9C>A	XP_016864779.1:n.-210+9C>A
XM_017009291.1:c.-210+9C>A	XP_016864780.1:n.-210+9C>A
XM_017009292.1:c.-210+9C>A	XP_016864781.1:n.-210+9C>A
NM_012208.4:c.525+9C>A MANE Select	NP_036340.1:n.525+9C>A
NM_001278731.2:c.450+9C>A	NP_001265660.1:n.450+9C>A
NM_001278732.2:c.94-96C>A	NP_001265661.1:n.94-96C>A
NM_001363535.2:c.543+9C>A	NP_001350464.1:n.543+9C>A
NM_001363536.2:c.315+9C>A	NP_001350465.1:n.315+9C>A