Canonical Allele Identifier: CA361197194

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075126G>T (hg19) ; chr5:g.140695541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695541G>T , CM000667.2:g.140695541G>T	GRCh38
NC_000005.9:g.140075126G>T , CM000667.1:g.140075126G>T	GRCh37
NC_000005.8:g.140055310G>T	NCBI36
NG_021415.1:g.9109G>T
NG_032158.1:g.846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.433G>T MANE Select	ENSP00000230771.3:p.Val145Leu
ENST00000503873.6:c.304-197G>T	ENSP00000424516.2:n.304-197G>T
ENST00000509299.6:c.223G>T	ENSP00000425695.2:p.Val75Leu
ENST00000520095.6:c.*104-197G>T	ENSP00000429220.1:n.*104-197G>T
ENST00000642452.1:c.399G>T
ENST00000642752.1:c.433G>T	ENSP00000493630.1:p.Val145Leu
ENST00000642970.1:c.223G>T	ENSP00000496011.1:p.Val75Leu
ENST00000643996.1:c.223G>T	ENSP00000495350.1:p.Val75Leu
ENST00000645065.1:c.451G>T	ENSP00000493571.1:p.Val151Leu
ENST00000645749.1:c.433G>T	ENSP00000494296.1:p.Val145Leu
ENST00000646468.1:c.451G>T	ENSP00000494965.1:p.Val151Leu
ENST00000647484.1:c.223G>T	ENSP00000494140.1:p.Val75Leu
ENST00000230771.7:c.433G>T	ENSP00000230771.3:p.Val145Leu
ENST00000448069.2:c.109-197G>T	ENSP00000407105.2:n.109-197G>T
ENST00000502303.5:n.516G>T
ENST00000508522.5:c.358G>T	ENSP00000423616.1:p.Val120Leu
ENST00000509299.5:c.451G>T	ENSP00000425695.1:p.Val151Leu
ENST00000510104.5:c.*233G>T	ENSP00000423530.1:n.*233G>T
ENST00000513688.1:n.440G>T
ENST00000520095.5:c.*104-197G>T	ENSP00000429220.1:n.*104-197G>T
NM_001278731.1:c.358G>T	NP_001265660.1:p.Val120Leu
NM_001278732.1:c.94-197G>T	NP_001265661.1:n.94-197G>T
NM_012208.3:c.433G>T	NP_036340.1:p.Val145Leu
XM_011537619.1:c.451G>T	XP_011535921.1:p.Val151Leu
XM_011537620.1:c.451G>T	XP_011535922.1:p.Val151Leu
NM_001363535.1:c.451G>T	NP_001350464.1:p.Val151Leu
NM_001363536.1:c.223G>T	NP_001350465.1:p.Val75Leu
XM_017009288.1:c.223G>T	XP_016864777.1:p.Val75Leu
XM_017009289.1:c.223G>T	XP_016864778.1:p.Val75Leu
XM_017009290.2:c.-302G>T	XP_016864779.1:n.-302G>T
XM_017009291.1:c.-302G>T	XP_016864780.1:n.-302G>T
XM_017009292.1:c.-302G>T	XP_016864781.1:n.-302G>T
NM_012208.4:c.433G>T MANE Select	NP_036340.1:p.Val145Leu
NM_001278731.2:c.358G>T	NP_001265660.1:p.Val120Leu
NM_001278732.2:c.94-197G>T	NP_001265661.1:n.94-197G>T
NM_001363535.2:c.451G>T	NP_001350464.1:p.Val151Leu
NM_001363536.2:c.223G>T	NP_001350465.1:p.Val75Leu