Canonical Allele Identifier: CA361198338

Gene: HARS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.614T>A MANE Select	ENSP00000230771.3:p.Leu205Ter
ENST00000503873.6:c.392T>A	ENSP00000424516.2:p.Leu131Ter
ENST00000509299.6:c.404T>A	ENSP00000425695.2:p.Leu135Ter
ENST00000520095.6:c.*192T>A	ENSP00000429220.1:n.*192T>A
ENST00000642452.1:c.580T>A
ENST00000642752.1:c.614T>A	ENSP00000493630.1:p.Leu205Ter
ENST00000642970.1:c.404T>A	ENSP00000496011.1:p.Leu135Ter
ENST00000643996.1:c.404T>A	ENSP00000495350.1:p.Leu135Ter
ENST00000645065.1:c.632T>A	ENSP00000493571.1:p.Leu211Ter
ENST00000645749.1:c.614T>A	ENSP00000494296.1:p.Leu205Ter
ENST00000646468.1:c.632T>A	ENSP00000494965.1:p.Leu211Ter
ENST00000647484.1:c.404T>A	ENSP00000494140.1:p.Leu135Ter
ENST00000230771.7:c.614T>A	ENSP00000230771.3:p.Leu205Ter
ENST00000448069.2:c.197T>A	ENSP00000407105.2:p.Leu66Ter
ENST00000508522.5:c.539T>A	ENSP00000423616.1:p.Leu180Ter
ENST00000510104.5:c.*414T>A	ENSP00000423530.1:n.*414T>A
ENST00000513688.1:n.621T>A
NM_001278731.1:c.539T>A	NP_001265660.1:p.Leu180Ter
NM_001278732.1:c.182T>A	NP_001265661.1:p.Leu61Ter
NM_012208.3:c.614T>A	NP_036340.1:p.Leu205Ter
XM_011537619.1:c.632T>A	XP_011535921.1:p.Leu211Ter
XM_011537620.1:c.632T>A	XP_011535922.1:p.Leu211Ter
NM_001363535.1:c.632T>A	NP_001350464.1:p.Leu211Ter
NM_001363536.1:c.404T>A	NP_001350465.1:p.Leu135Ter
XM_017009288.1:c.404T>A	XP_016864777.1:p.Leu135Ter
XM_017009289.1:c.404T>A	XP_016864778.1:p.Leu135Ter
XM_017009290.2:c.-121T>A	XP_016864779.1:n.-121T>A
XM_017009291.1:c.-121T>A	XP_016864780.1:n.-121T>A
XM_017009292.1:c.-121T>A	XP_016864781.1:n.-121T>A
NM_012208.4:c.614T>A MANE Select	NP_036340.1:p.Leu205Ter
NM_001278731.2:c.539T>A	NP_001265660.1:p.Leu180Ter
NM_001278732.2:c.182T>A	NP_001265661.1:p.Leu61Ter
NM_001363535.2:c.632T>A	NP_001350464.1:p.Leu211Ter
NM_001363536.2:c.404T>A	NP_001350465.1:p.Leu135Ter