Canonical Allele Identifier: CA361197811

Gene: HARS2

Linked Data

• dbSNP Id: rs552030371
• MyVariant Identifiers: chr5:g.140075217G>A (hg19) ; chr5:g.140695632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695632G>A , CM000667.2:g.140695632G>A	GRCh38
NC_000005.9:g.140075217G>A , CM000667.1:g.140075217G>A	GRCh37
NC_000005.8:g.140055401G>A	NCBI36
NG_021415.1:g.9200G>A
NG_032158.1:g.755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.524G>A MANE Select	ENSP00000230771.3:p.Cys175Tyr
ENST00000503873.6:c.304-106G>A	ENSP00000424516.2:n.304-106G>A
ENST00000509299.6:c.314G>A	ENSP00000425695.2:p.Cys105Tyr
ENST00000520095.6:c.*104-106G>A	ENSP00000429220.1:n.*104-106G>A
ENST00000642452.1:c.490G>A
ENST00000642752.1:c.524G>A	ENSP00000493630.1:p.Cys175Tyr
ENST00000642970.1:c.314G>A	ENSP00000496011.1:p.Cys105Tyr
ENST00000643996.1:c.314G>A	ENSP00000495350.1:p.Cys105Tyr
ENST00000645065.1:c.542G>A	ENSP00000493571.1:p.Cys181Tyr
ENST00000645749.1:c.524G>A	ENSP00000494296.1:p.Cys175Tyr
ENST00000646468.1:c.542G>A	ENSP00000494965.1:p.Cys181Tyr
ENST00000647484.1:c.314G>A	ENSP00000494140.1:p.Cys105Tyr
ENST00000230771.7:c.524G>A	ENSP00000230771.3:p.Cys175Tyr
ENST00000448069.2:c.109-106G>A	ENSP00000407105.2:n.109-106G>A
ENST00000508522.5:c.449G>A	ENSP00000423616.1:p.Cys150Tyr
ENST00000509299.5:c.542G>A	ENSP00000425695.1:p.Cys181Tyr
ENST00000510104.5:c.*324G>A	ENSP00000423530.1:n.*324G>A
ENST00000513688.1:n.531G>A
ENST00000520095.5:c.*104-106G>A	ENSP00000429220.1:n.*104-106G>A
NM_001278731.1:c.449G>A	NP_001265660.1:p.Cys150Tyr
NM_001278732.1:c.94-106G>A	NP_001265661.1:n.94-106G>A
NM_012208.3:c.524G>A	NP_036340.1:p.Cys175Tyr
XM_011537619.1:c.542G>A	XP_011535921.1:p.Cys181Tyr
XM_011537620.1:c.542G>A	XP_011535922.1:p.Cys181Tyr
NM_001363535.1:c.542G>A	NP_001350464.1:p.Cys181Tyr
NM_001363536.1:c.314G>A	NP_001350465.1:p.Cys105Tyr
XM_017009288.1:c.314G>A	XP_016864777.1:p.Cys105Tyr
XM_017009289.1:c.314G>A	XP_016864778.1:p.Cys105Tyr
XM_017009290.2:c.-211G>A	XP_016864779.1:n.-211G>A
XM_017009291.1:c.-211G>A	XP_016864780.1:n.-211G>A
XM_017009292.1:c.-211G>A	XP_016864781.1:n.-211G>A
NM_012208.4:c.524G>A MANE Select	NP_036340.1:p.Cys175Tyr
NM_001278731.2:c.449G>A	NP_001265660.1:p.Cys150Tyr
NM_001278732.2:c.94-106G>A	NP_001265661.1:n.94-106G>A
NM_001363535.2:c.542G>A	NP_001350464.1:p.Cys181Tyr
NM_001363536.2:c.314G>A	NP_001350465.1:p.Cys105Tyr