Canonical Allele Identifier: CA361197082

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075112T>A (hg19) ; chr5:g.140695527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695527T>A , CM000667.2:g.140695527T>A	GRCh38
NC_000005.9:g.140075112T>A , CM000667.1:g.140075112T>A	GRCh37
NC_000005.8:g.140055296T>A	NCBI36
NG_021415.1:g.9095T>A
NG_032158.1:g.860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.419T>A MANE Select	ENSP00000230771.3:p.Leu140Gln
ENST00000503873.6:c.304-211T>A	ENSP00000424516.2:n.304-211T>A
ENST00000509299.6:c.209T>A	ENSP00000425695.2:p.Leu70Gln
ENST00000520095.6:c.*104-211T>A	ENSP00000429220.1:n.*104-211T>A
ENST00000642452.1:c.385T>A
ENST00000642752.1:c.419T>A	ENSP00000493630.1:p.Leu140Gln
ENST00000642970.1:c.209T>A	ENSP00000496011.1:p.Leu70Gln
ENST00000643996.1:c.209T>A	ENSP00000495350.1:p.Leu70Gln
ENST00000645065.1:c.437T>A	ENSP00000493571.1:p.Leu146Gln
ENST00000645749.1:c.419T>A	ENSP00000494296.1:p.Leu140Gln
ENST00000646468.1:c.437T>A	ENSP00000494965.1:p.Leu146Gln
ENST00000647484.1:c.209T>A	ENSP00000494140.1:p.Leu70Gln
ENST00000230771.7:c.419T>A	ENSP00000230771.3:p.Leu140Gln
ENST00000448069.2:c.109-211T>A	ENSP00000407105.2:n.109-211T>A
ENST00000502303.5:n.502T>A
ENST00000508522.5:c.344T>A	ENSP00000423616.1:p.Leu115Gln
ENST00000509299.5:c.437T>A	ENSP00000425695.1:p.Leu146Gln
ENST00000510104.5:c.*219T>A	ENSP00000423530.1:n.*219T>A
ENST00000513688.1:n.426T>A
ENST00000520095.5:c.*104-211T>A	ENSP00000429220.1:n.*104-211T>A
NM_001278731.1:c.344T>A	NP_001265660.1:p.Leu115Gln
NM_001278732.1:c.94-211T>A	NP_001265661.1:n.94-211T>A
NM_012208.3:c.419T>A	NP_036340.1:p.Leu140Gln
XM_011537619.1:c.437T>A	XP_011535921.1:p.Leu146Gln
XM_011537620.1:c.437T>A	XP_011535922.1:p.Leu146Gln
NM_001363535.1:c.437T>A	NP_001350464.1:p.Leu146Gln
NM_001363536.1:c.209T>A	NP_001350465.1:p.Leu70Gln
XM_017009288.1:c.209T>A	XP_016864777.1:p.Leu70Gln
XM_017009289.1:c.209T>A	XP_016864778.1:p.Leu70Gln
XM_017009290.2:c.-316T>A	XP_016864779.1:n.-316T>A
XM_017009291.1:c.-316T>A	XP_016864780.1:n.-316T>A
XM_017009292.1:c.-316T>A	XP_016864781.1:n.-316T>A
NM_012208.4:c.419T>A MANE Select	NP_036340.1:p.Leu140Gln
NM_001278731.2:c.344T>A	NP_001265660.1:p.Leu115Gln
NM_001278732.2:c.94-211T>A	NP_001265661.1:n.94-211T>A
NM_001363535.2:c.437T>A	NP_001350464.1:p.Leu146Gln
NM_001363536.2:c.209T>A	NP_001350465.1:p.Leu70Gln