Canonical Allele Identifier: CA3444443

Gene: HARS2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695597dup , CM000667.2:g.140695597dup	GRCh38
NC_000005.9:g.140075182dup , CM000667.1:g.140075182dup	GRCh37
NC_000005.8:g.140055366dup	NCBI36
NG_021415.1:g.9165dup
NG_032158.1:g.791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.489dup MANE Select	ENSP00000230771.3:p.Ile164HisfsTer7
ENST00000503873.6:c.304-141dup	ENSP00000424516.2:n.304-141dup
ENST00000509299.6:c.279dup	ENSP00000425695.2:p.Ile94HisfsTer7
ENST00000520095.6:c.*104-141dup	ENSP00000429220.1:n.*104-141dup
ENST00000642452.1:c.455dup
ENST00000642752.1:c.489dup	ENSP00000493630.1:p.Ile164HisfsTer7
ENST00000642970.1:c.279dup	ENSP00000496011.1:p.Ile94HisfsTer7
ENST00000643996.1:c.279dup	ENSP00000495350.1:p.Ile94HisfsTer7
ENST00000645065.1:c.507dup	ENSP00000493571.1:p.Ile170HisfsTer7
ENST00000645749.1:c.489dup	ENSP00000494296.1:p.Ile164HisfsTer7
ENST00000646468.1:c.507dup	ENSP00000494965.1:p.Ile170HisfsTer7
ENST00000647484.1:c.279dup	ENSP00000494140.1:p.Ile94HisfsTer7
ENST00000230771.7:c.489dup	ENSP00000230771.3:p.Ile164HisfsTer7
ENST00000448069.2:c.109-141dup	ENSP00000407105.2:n.109-141dup
ENST00000508522.5:c.414dup	ENSP00000423616.1:p.Ile139HisfsTer7
ENST00000509299.5:c.507dup	ENSP00000425695.1:p.Ile170HisfsTer7
ENST00000510104.5:c.*289dup	ENSP00000423530.1:n.*289dup
ENST00000513688.1:n.496dup
ENST00000520095.5:c.*104-141dup	ENSP00000429220.1:n.*104-141dup
NM_001278731.1:c.414dup	NP_001265660.1:p.Ile139HisfsTer7
NM_001278732.1:c.94-141dup	NP_001265661.1:n.94-141dup
NM_012208.3:c.489dup	NP_036340.1:p.Ile164HisfsTer7
XM_011537619.1:c.507dup	XP_011535921.1:p.Ile170HisfsTer7
XM_011537620.1:c.507dup	XP_011535922.1:p.Ile170HisfsTer7
NM_001363535.1:c.507dup	NP_001350464.1:p.Ile170HisfsTer7
NM_001363536.1:c.279dup	NP_001350465.1:p.Ile94HisfsTer7
XM_017009288.1:c.279dup	XP_016864777.1:p.Ile94HisfsTer7
XM_017009289.1:c.279dup	XP_016864778.1:p.Ile94HisfsTer7
XM_017009290.2:c.-246dup	XP_016864779.1:n.-246dup
XM_017009291.1:c.-246dup	XP_016864780.1:n.-246dup
XM_017009292.1:c.-246dup	XP_016864781.1:n.-246dup
NM_012208.4:c.489dup MANE Select	NP_036340.1:p.Ile164HisfsTer7
NM_001278731.2:c.414dup	NP_001265660.1:p.Ile139HisfsTer7
NM_001278732.2:c.94-141dup	NP_001265661.1:n.94-141dup
NM_001363535.2:c.507dup	NP_001350464.1:p.Ile170HisfsTer7
NM_001363536.2:c.279dup	NP_001350465.1:p.Ile94HisfsTer7