Canonical Allele Identifier: CA361197794

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075215G>C (hg19) ; chr5:g.140695630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695630G>C , CM000667.2:g.140695630G>C	GRCh38
NC_000005.9:g.140075215G>C , CM000667.1:g.140075215G>C	GRCh37
NC_000005.8:g.140055399G>C	NCBI36
NG_021415.1:g.9198G>C
NG_032158.1:g.757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.522G>C MANE Select	ENSP00000230771.3:p.Gln174His
ENST00000503873.6:c.304-108G>C	ENSP00000424516.2:n.304-108G>C
ENST00000509299.6:c.312G>C	ENSP00000425695.2:p.Gln104His
ENST00000520095.6:c.*104-108G>C	ENSP00000429220.1:n.*104-108G>C
ENST00000642452.1:c.488G>C
ENST00000642752.1:c.522G>C	ENSP00000493630.1:p.Gln174His
ENST00000642970.1:c.312G>C	ENSP00000496011.1:p.Gln104His
ENST00000643996.1:c.312G>C	ENSP00000495350.1:p.Gln104His
ENST00000645065.1:c.540G>C	ENSP00000493571.1:p.Gln180His
ENST00000645749.1:c.522G>C	ENSP00000494296.1:p.Gln174His
ENST00000646468.1:c.540G>C	ENSP00000494965.1:p.Gln180His
ENST00000647484.1:c.312G>C	ENSP00000494140.1:p.Gln104His
ENST00000230771.7:c.522G>C	ENSP00000230771.3:p.Gln174His
ENST00000448069.2:c.109-108G>C	ENSP00000407105.2:n.109-108G>C
ENST00000508522.5:c.447G>C	ENSP00000423616.1:p.Gln149His
ENST00000509299.5:c.540G>C	ENSP00000425695.1:p.Gln180His
ENST00000510104.5:c.*322G>C	ENSP00000423530.1:n.*322G>C
ENST00000513688.1:n.529G>C
ENST00000520095.5:c.*104-108G>C	ENSP00000429220.1:n.*104-108G>C
NM_001278731.1:c.447G>C	NP_001265660.1:p.Gln149His
NM_001278732.1:c.94-108G>C	NP_001265661.1:n.94-108G>C
NM_012208.3:c.522G>C	NP_036340.1:p.Gln174His
XM_011537619.1:c.540G>C	XP_011535921.1:p.Gln180His
XM_011537620.1:c.540G>C	XP_011535922.1:p.Gln180His
NM_001363535.1:c.540G>C	NP_001350464.1:p.Gln180His
NM_001363536.1:c.312G>C	NP_001350465.1:p.Gln104His
XM_017009288.1:c.312G>C	XP_016864777.1:p.Gln104His
XM_017009289.1:c.312G>C	XP_016864778.1:p.Gln104His
XM_017009290.2:c.-213G>C	XP_016864779.1:n.-213G>C
XM_017009291.1:c.-213G>C	XP_016864780.1:n.-213G>C
XM_017009292.1:c.-213G>C	XP_016864781.1:n.-213G>C
NM_012208.4:c.522G>C MANE Select	NP_036340.1:p.Gln174His
NM_001278731.2:c.447G>C	NP_001265660.1:p.Gln149His
NM_001278732.2:c.94-108G>C	NP_001265661.1:n.94-108G>C
NM_001363535.2:c.540G>C	NP_001350464.1:p.Gln180His
NM_001363536.2:c.312G>C	NP_001350465.1:p.Gln104His