Canonical Allele Identifier: CA1586866884

Gene: HARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695799T= , CM000667.2:g.140695799T=	GRCh38
NC_000005.9:g.140075384T= , CM000667.1:g.140075384T=	GRCh37
NC_000005.8:g.140055568T=	NCBI36
NG_021415.1:g.9367T=
NG_032158.1:g.588A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.587T= MANE Select	ENSP00000230771.3:p.Met196=
ENST00000503873.6:c.365T=	ENSP00000424516.2:p.Met122=
ENST00000509299.6:c.377T=	ENSP00000425695.2:p.Met126=
ENST00000520095.6:c.*165T=	ENSP00000429220.1:n.*165T=
ENST00000642452.1:c.553T=
ENST00000642752.1:c.587T=	ENSP00000493630.1:p.Met196=
ENST00000642970.1:c.377T=	ENSP00000496011.1:p.Met126=
ENST00000643996.1:c.377T=	ENSP00000495350.1:p.Met126=
ENST00000645065.1:c.605T=	ENSP00000493571.1:p.Met202=
ENST00000645749.1:c.587T=	ENSP00000494296.1:p.Met196=
ENST00000646468.1:c.605T=	ENSP00000494965.1:p.Met202=
ENST00000647484.1:c.377T=	ENSP00000494140.1:p.Met126=
ENST00000230771.7:c.587T=	ENSP00000230771.3:p.Met196=
ENST00000448069.2:c.170T=	ENSP00000407105.2:p.Met57=
ENST00000508522.5:c.512T=	ENSP00000423616.1:p.Met171=
ENST00000510104.5:c.*387T=	ENSP00000423530.1:n.*387T=
ENST00000513688.1:n.594T=
NM_001278731.1:c.512T=	NP_001265660.1:p.Met171=
NM_001278732.1:c.155T=	NP_001265661.1:p.Met52=
NM_012208.3:c.587T=	NP_036340.1:p.Met196=
XM_011537619.1:c.605T=	XP_011535921.1:p.Met202=
XM_011537620.1:c.605T=	XP_011535922.1:p.Met202=
NM_001363535.1:c.605T=	NP_001350464.1:p.Met202=
NM_001363536.1:c.377T=	NP_001350465.1:p.Met126=
XM_017009288.1:c.377T=	XP_016864777.1:p.Met126=
XM_017009289.1:c.377T=	XP_016864778.1:p.Met126=
XM_017009290.2:c.-148T=	XP_016864779.1:n.-148T=
XM_017009291.1:c.-148T=	XP_016864780.1:n.-148T=
XM_017009292.1:c.-148T=	XP_016864781.1:n.-148T=
NM_012208.4:c.587T= MANE Select	NP_036340.1:p.Met196=
NM_001278731.2:c.512T=	NP_001265660.1:p.Met171=
NM_001278732.2:c.155T=	NP_001265661.1:p.Met52=
NM_001363535.2:c.605T=	NP_001350464.1:p.Met202=
NM_001363536.2:c.377T=	NP_001350465.1:p.Met126=