Canonical Allele Identifier: CA361198178

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075376G>C (hg19) ; chr5:g.140695791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695791G>C , CM000667.2:g.140695791G>C	GRCh38
NC_000005.9:g.140075376G>C , CM000667.1:g.140075376G>C	GRCh37
NC_000005.8:g.140055560G>C	NCBI36
NG_021415.1:g.9359G>C
NG_032158.1:g.596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.579G>C MANE Select	ENSP00000230771.3:p.Leu193Phe
ENST00000503873.6:c.357G>C	ENSP00000424516.2:p.Leu119Phe
ENST00000509299.6:c.369G>C	ENSP00000425695.2:p.Leu123Phe
ENST00000520095.6:c.*157G>C	ENSP00000429220.1:n.*157G>C
ENST00000642452.1:c.545G>C
ENST00000642752.1:c.579G>C	ENSP00000493630.1:p.Leu193Phe
ENST00000642970.1:c.369G>C	ENSP00000496011.1:p.Leu123Phe
ENST00000643996.1:c.369G>C	ENSP00000495350.1:p.Leu123Phe
ENST00000645065.1:c.597G>C	ENSP00000493571.1:p.Leu199Phe
ENST00000645749.1:c.579G>C	ENSP00000494296.1:p.Leu193Phe
ENST00000646468.1:c.597G>C	ENSP00000494965.1:p.Leu199Phe
ENST00000647484.1:c.369G>C	ENSP00000494140.1:p.Leu123Phe
ENST00000230771.7:c.579G>C	ENSP00000230771.3:p.Leu193Phe
ENST00000448069.2:c.162G>C	ENSP00000407105.2:p.Leu54Phe
ENST00000508522.5:c.504G>C	ENSP00000423616.1:p.Leu168Phe
ENST00000510104.5:c.*379G>C	ENSP00000423530.1:n.*379G>C
ENST00000513688.1:n.586G>C
NM_001278731.1:c.504G>C	NP_001265660.1:p.Leu168Phe
NM_001278732.1:c.147G>C	NP_001265661.1:p.Leu49Phe
NM_012208.3:c.579G>C	NP_036340.1:p.Leu193Phe
XM_011537619.1:c.597G>C	XP_011535921.1:p.Leu199Phe
XM_011537620.1:c.597G>C	XP_011535922.1:p.Leu199Phe
NM_001363535.1:c.597G>C	NP_001350464.1:p.Leu199Phe
NM_001363536.1:c.369G>C	NP_001350465.1:p.Leu123Phe
XM_017009288.1:c.369G>C	XP_016864777.1:p.Leu123Phe
XM_017009289.1:c.369G>C	XP_016864778.1:p.Leu123Phe
XM_017009290.2:c.-156G>C	XP_016864779.1:n.-156G>C
XM_017009291.1:c.-156G>C	XP_016864780.1:n.-156G>C
XM_017009292.1:c.-156G>C	XP_016864781.1:n.-156G>C
NM_012208.4:c.579G>C MANE Select	NP_036340.1:p.Leu193Phe
NM_001278731.2:c.504G>C	NP_001265660.1:p.Leu168Phe
NM_001278732.2:c.147G>C	NP_001265661.1:p.Leu49Phe
NM_001363535.2:c.597G>C	NP_001350464.1:p.Leu199Phe
NM_001363536.2:c.369G>C	NP_001350465.1:p.Leu123Phe