Canonical Allele Identifier: CA361198377

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075420T>G (hg19) ; chr5:g.140695835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695835T>G , CM000667.2:g.140695835T>G	GRCh38
NC_000005.9:g.140075420T>G , CM000667.1:g.140075420T>G	GRCh37
NC_000005.8:g.140055604T>G	NCBI36
NG_021415.1:g.9403T>G
NG_032158.1:g.552A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.623T>G MANE Select	ENSP00000230771.3:p.Phe208Cys
ENST00000503873.6:c.401T>G	ENSP00000424516.2:p.Phe134Cys
ENST00000509299.6:c.413T>G	ENSP00000425695.2:p.Phe138Cys
ENST00000520095.6:c.*201T>G	ENSP00000429220.1:n.*201T>G
ENST00000642452.1:c.589T>G
ENST00000642752.1:c.623T>G	ENSP00000493630.1:p.Phe208Cys
ENST00000642970.1:c.413T>G	ENSP00000496011.1:p.Phe138Cys
ENST00000643996.1:c.413T>G	ENSP00000495350.1:p.Phe138Cys
ENST00000645065.1:c.641T>G	ENSP00000493571.1:p.Phe214Cys
ENST00000645749.1:c.623T>G	ENSP00000494296.1:p.Phe208Cys
ENST00000646468.1:c.641T>G	ENSP00000494965.1:p.Phe214Cys
ENST00000647484.1:c.413T>G	ENSP00000494140.1:p.Phe138Cys
ENST00000230771.7:c.623T>G	ENSP00000230771.3:p.Phe208Cys
ENST00000448069.2:c.206T>G	ENSP00000407105.2:p.Phe69Cys
ENST00000508522.5:c.548T>G	ENSP00000423616.1:p.Phe183Cys
ENST00000510104.5:c.*423T>G	ENSP00000423530.1:n.*423T>G
ENST00000513688.1:n.630T>G
NM_001278731.1:c.548T>G	NP_001265660.1:p.Phe183Cys
NM_001278732.1:c.191T>G	NP_001265661.1:p.Phe64Cys
NM_012208.3:c.623T>G	NP_036340.1:p.Phe208Cys
XM_011537619.1:c.641T>G	XP_011535921.1:p.Phe214Cys
XM_011537620.1:c.641T>G	XP_011535922.1:p.Phe214Cys
NM_001363535.1:c.641T>G	NP_001350464.1:p.Phe214Cys
NM_001363536.1:c.413T>G	NP_001350465.1:p.Phe138Cys
XM_017009288.1:c.413T>G	XP_016864777.1:p.Phe138Cys
XM_017009289.1:c.413T>G	XP_016864778.1:p.Phe138Cys
XM_017009290.2:c.-112T>G	XP_016864779.1:n.-112T>G
XM_017009291.1:c.-112T>G	XP_016864780.1:n.-112T>G
XM_017009292.1:c.-112T>G	XP_016864781.1:n.-112T>G
NM_012208.4:c.623T>G MANE Select	NP_036340.1:p.Phe208Cys
NM_001278731.2:c.548T>G	NP_001265660.1:p.Phe183Cys
NM_001278732.2:c.191T>G	NP_001265661.1:p.Phe64Cys
NM_001363535.2:c.641T>G	NP_001350464.1:p.Phe214Cys
NM_001363536.2:c.413T>G	NP_001350465.1:p.Phe138Cys