Canonical Allele Identifier: CA2675626017

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695635-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695637dup , CM000667.2:g.140695637dup	GRCh38
NC_000005.9:g.140075222dup , CM000667.1:g.140075222dup	GRCh37
NC_000005.8:g.140055406dup	NCBI36
NG_021415.1:g.9205dup
NG_032158.1:g.751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.525+4dup MANE Select	ENSP00000230771.3:n.525+4dup
ENST00000503873.6:c.304-101dup	ENSP00000424516.2:n.304-101dup
ENST00000509299.6:c.315+4dup	ENSP00000425695.2:n.315+4dup
ENST00000520095.6:c.*104-101dup	ENSP00000429220.1:n.*104-101dup
ENST00000642452.1:c.491+4dup
ENST00000642752.1:c.525+4dup	ENSP00000493630.1:n.525+4dup
ENST00000642970.1:c.315+4dup	ENSP00000496011.1:n.315+4dup
ENST00000643996.1:c.315+4dup	ENSP00000495350.1:n.315+4dup
ENST00000645065.1:c.543+4dup	ENSP00000493571.1:n.543+4dup
ENST00000645749.1:c.525+4dup	ENSP00000494296.1:n.525+4dup
ENST00000646468.1:c.543+4dup	ENSP00000494965.1:n.543+4dup
ENST00000647484.1:c.315+4dup	ENSP00000494140.1:n.315+4dup
ENST00000230771.7:c.525+4dup	ENSP00000230771.3:n.525+4dup
ENST00000448069.2:c.109-101dup	ENSP00000407105.2:n.109-101dup
ENST00000508522.5:c.450+4dup	ENSP00000423616.1:n.450+4dup
ENST00000510104.5:c.*325+4dup	ENSP00000423530.1:n.*325+4dup
ENST00000513688.1:n.532+4dup
ENST00000520095.5:c.*104-101dup	ENSP00000429220.1:n.*104-101dup
NM_001278731.1:c.450+4dup	NP_001265660.1:n.450+4dup
NM_001278732.1:c.94-101dup	NP_001265661.1:n.94-101dup
NM_012208.3:c.525+4dup	NP_036340.1:n.525+4dup
XM_011537619.1:c.543+4dup	XP_011535921.1:n.543+4dup
XM_011537620.1:c.543+4dup	XP_011535922.1:n.543+4dup
NM_001363535.1:c.543+4dup	NP_001350464.1:n.543+4dup
NM_001363536.1:c.315+4dup	NP_001350465.1:n.315+4dup
XM_017009288.1:c.315+4dup	XP_016864777.1:n.315+4dup
XM_017009289.1:c.315+4dup	XP_016864778.1:n.315+4dup
XM_017009290.2:c.-210+4dup	XP_016864779.1:n.-210+4dup
XM_017009291.1:c.-210+4dup	XP_016864780.1:n.-210+4dup
XM_017009292.1:c.-210+4dup	XP_016864781.1:n.-210+4dup
NM_012208.4:c.525+4dup MANE Select	NP_036340.1:n.525+4dup
NM_001278731.2:c.450+4dup	NP_001265660.1:n.450+4dup
NM_001278732.2:c.94-101dup	NP_001265661.1:n.94-101dup
NM_001363535.2:c.543+4dup	NP_001350464.1:n.543+4dup
NM_001363536.2:c.315+4dup	NP_001350465.1:n.315+4dup