Canonical Allele Identifier: CA361198342

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075411T>G (hg19) ; chr5:g.140695826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695826T>G , CM000667.2:g.140695826T>G	GRCh38
NC_000005.9:g.140075411T>G , CM000667.1:g.140075411T>G	GRCh37
NC_000005.8:g.140055595T>G	NCBI36
NG_021415.1:g.9394T>G
NG_032158.1:g.561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.614T>G MANE Select	ENSP00000230771.3:p.Leu205Trp
ENST00000503873.6:c.392T>G	ENSP00000424516.2:p.Leu131Trp
ENST00000509299.6:c.404T>G	ENSP00000425695.2:p.Leu135Trp
ENST00000520095.6:c.*192T>G	ENSP00000429220.1:n.*192T>G
ENST00000642452.1:c.580T>G
ENST00000642752.1:c.614T>G	ENSP00000493630.1:p.Leu205Trp
ENST00000642970.1:c.404T>G	ENSP00000496011.1:p.Leu135Trp
ENST00000643996.1:c.404T>G	ENSP00000495350.1:p.Leu135Trp
ENST00000645065.1:c.632T>G	ENSP00000493571.1:p.Leu211Trp
ENST00000645749.1:c.614T>G	ENSP00000494296.1:p.Leu205Trp
ENST00000646468.1:c.632T>G	ENSP00000494965.1:p.Leu211Trp
ENST00000647484.1:c.404T>G	ENSP00000494140.1:p.Leu135Trp
ENST00000230771.7:c.614T>G	ENSP00000230771.3:p.Leu205Trp
ENST00000448069.2:c.197T>G	ENSP00000407105.2:p.Leu66Trp
ENST00000508522.5:c.539T>G	ENSP00000423616.1:p.Leu180Trp
ENST00000510104.5:c.*414T>G	ENSP00000423530.1:n.*414T>G
ENST00000513688.1:n.621T>G
NM_001278731.1:c.539T>G	NP_001265660.1:p.Leu180Trp
NM_001278732.1:c.182T>G	NP_001265661.1:p.Leu61Trp
NM_012208.3:c.614T>G	NP_036340.1:p.Leu205Trp
XM_011537619.1:c.632T>G	XP_011535921.1:p.Leu211Trp
XM_011537620.1:c.632T>G	XP_011535922.1:p.Leu211Trp
NM_001363535.1:c.632T>G	NP_001350464.1:p.Leu211Trp
NM_001363536.1:c.404T>G	NP_001350465.1:p.Leu135Trp
XM_017009288.1:c.404T>G	XP_016864777.1:p.Leu135Trp
XM_017009289.1:c.404T>G	XP_016864778.1:p.Leu135Trp
XM_017009290.2:c.-121T>G	XP_016864779.1:n.-121T>G
XM_017009291.1:c.-121T>G	XP_016864780.1:n.-121T>G
XM_017009292.1:c.-121T>G	XP_016864781.1:n.-121T>G
NM_012208.4:c.614T>G MANE Select	NP_036340.1:p.Leu205Trp
NM_001278731.2:c.539T>G	NP_001265660.1:p.Leu180Trp
NM_001278732.2:c.182T>G	NP_001265661.1:p.Leu61Trp
NM_001363535.2:c.632T>G	NP_001350464.1:p.Leu211Trp
NM_001363536.2:c.404T>G	NP_001350465.1:p.Leu135Trp