Canonical Allele Identifier: CA361198332

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075409G>T (hg19) ; chr5:g.140695824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695824G>T , CM000667.2:g.140695824G>T	GRCh38
NC_000005.9:g.140075409G>T , CM000667.1:g.140075409G>T	GRCh37
NC_000005.8:g.140055593G>T	NCBI36
NG_021415.1:g.9392G>T
NG_032158.1:g.563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.612G>T MANE Select	ENSP00000230771.3:p.Gln204His
ENST00000503873.6:c.390G>T	ENSP00000424516.2:p.Gln130His
ENST00000509299.6:c.402G>T	ENSP00000425695.2:p.Gln134His
ENST00000520095.6:c.*190G>T	ENSP00000429220.1:n.*190G>T
ENST00000642452.1:c.578G>T
ENST00000642752.1:c.612G>T	ENSP00000493630.1:p.Gln204His
ENST00000642970.1:c.402G>T	ENSP00000496011.1:p.Gln134His
ENST00000643996.1:c.402G>T	ENSP00000495350.1:p.Gln134His
ENST00000645065.1:c.630G>T	ENSP00000493571.1:p.Gln210His
ENST00000645749.1:c.612G>T	ENSP00000494296.1:p.Gln204His
ENST00000646468.1:c.630G>T	ENSP00000494965.1:p.Gln210His
ENST00000647484.1:c.402G>T	ENSP00000494140.1:p.Gln134His
ENST00000230771.7:c.612G>T	ENSP00000230771.3:p.Gln204His
ENST00000448069.2:c.195G>T	ENSP00000407105.2:p.Gln65His
ENST00000508522.5:c.537G>T	ENSP00000423616.1:p.Gln179His
ENST00000510104.5:c.*412G>T	ENSP00000423530.1:n.*412G>T
ENST00000513688.1:n.619G>T
NM_001278731.1:c.537G>T	NP_001265660.1:p.Gln179His
NM_001278732.1:c.180G>T	NP_001265661.1:p.Gln60His
NM_012208.3:c.612G>T	NP_036340.1:p.Gln204His
XM_011537619.1:c.630G>T	XP_011535921.1:p.Gln210His
XM_011537620.1:c.630G>T	XP_011535922.1:p.Gln210His
NM_001363535.1:c.630G>T	NP_001350464.1:p.Gln210His
NM_001363536.1:c.402G>T	NP_001350465.1:p.Gln134His
XM_017009288.1:c.402G>T	XP_016864777.1:p.Gln134His
XM_017009289.1:c.402G>T	XP_016864778.1:p.Gln134His
XM_017009290.2:c.-123G>T	XP_016864779.1:n.-123G>T
XM_017009291.1:c.-123G>T	XP_016864780.1:n.-123G>T
XM_017009292.1:c.-123G>T	XP_016864781.1:n.-123G>T
NM_012208.4:c.612G>T MANE Select	NP_036340.1:p.Gln204His
NM_001278731.2:c.537G>T	NP_001265660.1:p.Gln179His
NM_001278732.2:c.180G>T	NP_001265661.1:p.Gln60His
NM_001363535.2:c.630G>T	NP_001350464.1:p.Gln210His
NM_001363536.2:c.402G>T	NP_001350465.1:p.Gln134His