Canonical Allele Identifier: CA361198168

Gene: HARS2

Linked Data

• dbSNP Id: rs1181214459
• gnomAD v2: 5-140075373-T-G
• gnomAD v4: 5-140695788-T-G
• MyVariant Identifiers: chr5:g.140075373T>G (hg19) ; chr5:g.140695788T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695788T>G , CM000667.2:g.140695788T>G	GRCh38
NC_000005.9:g.140075373T>G , CM000667.1:g.140075373T>G	GRCh37
NC_000005.8:g.140055557T>G	NCBI36
NG_021415.1:g.9356T>G
NG_032158.1:g.599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.576T>G MANE Select	ENSP00000230771.3:p.Cys192Trp
ENST00000503873.6:c.354T>G	ENSP00000424516.2:p.Cys118Trp
ENST00000509299.6:c.366T>G	ENSP00000425695.2:p.Cys122Trp
ENST00000520095.6:c.*154T>G	ENSP00000429220.1:n.*154T>G
ENST00000642452.1:c.542T>G
ENST00000642752.1:c.576T>G	ENSP00000493630.1:p.Cys192Trp
ENST00000642970.1:c.366T>G	ENSP00000496011.1:p.Cys122Trp
ENST00000643996.1:c.366T>G	ENSP00000495350.1:p.Cys122Trp
ENST00000645065.1:c.594T>G	ENSP00000493571.1:p.Cys198Trp
ENST00000645749.1:c.576T>G	ENSP00000494296.1:p.Cys192Trp
ENST00000646468.1:c.594T>G	ENSP00000494965.1:p.Cys198Trp
ENST00000647484.1:c.366T>G	ENSP00000494140.1:p.Cys122Trp
ENST00000230771.7:c.576T>G	ENSP00000230771.3:p.Cys192Trp
ENST00000448069.2:c.159T>G	ENSP00000407105.2:p.Cys53Trp
ENST00000508522.5:c.501T>G	ENSP00000423616.1:p.Cys167Trp
ENST00000510104.5:c.*376T>G	ENSP00000423530.1:n.*376T>G
ENST00000513688.1:n.583T>G
NM_001278731.1:c.501T>G	NP_001265660.1:p.Cys167Trp
NM_001278732.1:c.144T>G	NP_001265661.1:p.Cys48Trp
NM_012208.3:c.576T>G	NP_036340.1:p.Cys192Trp
XM_011537619.1:c.594T>G	XP_011535921.1:p.Cys198Trp
XM_011537620.1:c.594T>G	XP_011535922.1:p.Cys198Trp
NM_001363535.1:c.594T>G	NP_001350464.1:p.Cys198Trp
NM_001363536.1:c.366T>G	NP_001350465.1:p.Cys122Trp
XM_017009288.1:c.366T>G	XP_016864777.1:p.Cys122Trp
XM_017009289.1:c.366T>G	XP_016864778.1:p.Cys122Trp
XM_017009290.2:c.-159T>G	XP_016864779.1:n.-159T>G
XM_017009291.1:c.-159T>G	XP_016864780.1:n.-159T>G
XM_017009292.1:c.-159T>G	XP_016864781.1:n.-159T>G
NM_012208.4:c.576T>G MANE Select	NP_036340.1:p.Cys192Trp
NM_001278731.2:c.501T>G	NP_001265660.1:p.Cys167Trp
NM_001278732.2:c.144T>G	NP_001265661.1:p.Cys48Trp
NM_001363535.2:c.594T>G	NP_001350464.1:p.Cys198Trp
NM_001363536.2:c.366T>G	NP_001350465.1:p.Cys122Trp