Canonical Allele Identifier: CA2675626040

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695791-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695793del , CM000667.2:g.140695793del	GRCh38
NC_000005.9:g.140075378del , CM000667.1:g.140075378del	GRCh37
NC_000005.8:g.140055562del	NCBI36
NG_021415.1:g.9361del
NG_032158.1:g.595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.581del MANE Select	ENSP00000230771.3:p.Lys194ArgfsTer7
ENST00000503873.6:c.359del	ENSP00000424516.2:p.Lys120ArgfsTer7
ENST00000509299.6:c.371del	ENSP00000425695.2:p.Lys124ArgfsTer7
ENST00000520095.6:c.*159del	ENSP00000429220.1:n.*159del
ENST00000642452.1:c.547del
ENST00000642752.1:c.581del	ENSP00000493630.1:p.Lys194ArgfsTer7
ENST00000642970.1:c.371del	ENSP00000496011.1:p.Lys124ArgfsTer7
ENST00000643996.1:c.371del	ENSP00000495350.1:p.Lys124ArgfsTer7
ENST00000645065.1:c.599del	ENSP00000493571.1:p.Lys200ArgfsTer7
ENST00000645749.1:c.581del	ENSP00000494296.1:p.Lys194ArgfsTer7
ENST00000646468.1:c.599del	ENSP00000494965.1:p.Lys200ArgfsTer7
ENST00000647484.1:c.371del	ENSP00000494140.1:p.Lys124ArgfsTer7
ENST00000230771.7:c.581del	ENSP00000230771.3:p.Lys194ArgfsTer7
ENST00000448069.2:c.164del	ENSP00000407105.2:p.Lys55ArgfsTer7
ENST00000508522.5:c.506del	ENSP00000423616.1:p.Lys169ArgfsTer7
ENST00000510104.5:c.*381del	ENSP00000423530.1:n.*381del
ENST00000513688.1:n.588del
NM_001278731.1:c.506del	NP_001265660.1:p.Lys169ArgfsTer7
NM_001278732.1:c.149del	NP_001265661.1:p.Lys50ArgfsTer7
NM_012208.3:c.581del	NP_036340.1:p.Lys194ArgfsTer7
XM_011537619.1:c.599del	XP_011535921.1:p.Lys200ArgfsTer7
XM_011537620.1:c.599del	XP_011535922.1:p.Lys200ArgfsTer7
NM_001363535.1:c.599del	NP_001350464.1:p.Lys200ArgfsTer7
NM_001363536.1:c.371del	NP_001350465.1:p.Lys124ArgfsTer7
XM_017009288.1:c.371del	XP_016864777.1:p.Lys124ArgfsTer7
XM_017009289.1:c.371del	XP_016864778.1:p.Lys124ArgfsTer7
XM_017009290.2:c.-154del	XP_016864779.1:n.-154del
XM_017009291.1:c.-154del	XP_016864780.1:n.-154del
XM_017009292.1:c.-154del	XP_016864781.1:n.-154del
NM_012208.4:c.581del MANE Select	NP_036340.1:p.Lys194ArgfsTer7
NM_001278731.2:c.506del	NP_001265660.1:p.Lys169ArgfsTer7
NM_001278732.2:c.149del	NP_001265661.1:p.Lys50ArgfsTer7
NM_001363535.2:c.599del	NP_001350464.1:p.Lys200ArgfsTer7
NM_001363536.2:c.371del	NP_001350465.1:p.Lys124ArgfsTer7