Canonical Allele Identifier: CA446804450

Gene: HARS2

Linked Data

• dbSNP Id: rs1312825410
• gnomAD v2: 5-140075415-A-G
• gnomAD v4: 5-140695830-A-G
• MyVariant Identifiers: chr5:g.140075415A>G (hg19) ; chr5:g.140695830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695830A>G , CM000667.2:g.140695830A>G	GRCh38
NC_000005.9:g.140075415A>G , CM000667.1:g.140075415A>G	GRCh37
NC_000005.8:g.140055599A>G	NCBI36
NG_021415.1:g.9398A>G
NG_032158.1:g.557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.618A>G MANE Select	ENSP00000230771.3:p.Gly206=
ENST00000503873.6:c.396A>G	ENSP00000424516.2:p.Gly132=
ENST00000509299.6:c.408A>G	ENSP00000425695.2:p.Gly136=
ENST00000520095.6:c.*196A>G	ENSP00000429220.1:n.*196A>G
ENST00000642452.1:c.584A>G
ENST00000642752.1:c.618A>G	ENSP00000493630.1:p.Gly206=
ENST00000642970.1:c.408A>G	ENSP00000496011.1:p.Gly136=
ENST00000643996.1:c.408A>G	ENSP00000495350.1:p.Gly136=
ENST00000645065.1:c.636A>G	ENSP00000493571.1:p.Gly212=
ENST00000645749.1:c.618A>G	ENSP00000494296.1:p.Gly206=
ENST00000646468.1:c.636A>G	ENSP00000494965.1:p.Gly212=
ENST00000647484.1:c.408A>G	ENSP00000494140.1:p.Gly136=
ENST00000230771.7:c.618A>G	ENSP00000230771.3:p.Gly206=
ENST00000448069.2:c.201A>G	ENSP00000407105.2:p.Gly67=
ENST00000508522.5:c.543A>G	ENSP00000423616.1:p.Gly181=
ENST00000510104.5:c.*418A>G	ENSP00000423530.1:n.*418A>G
ENST00000513688.1:n.625A>G
NM_001278731.1:c.543A>G	NP_001265660.1:p.Gly181=
NM_001278732.1:c.186A>G	NP_001265661.1:p.Gly62=
NM_012208.3:c.618A>G	NP_036340.1:p.Gly206=
XM_011537619.1:c.636A>G	XP_011535921.1:p.Gly212=
XM_011537620.1:c.636A>G	XP_011535922.1:p.Gly212=
NM_001363535.1:c.636A>G	NP_001350464.1:p.Gly212=
NM_001363536.1:c.408A>G	NP_001350465.1:p.Gly136=
XM_017009288.1:c.408A>G	XP_016864777.1:p.Gly136=
XM_017009289.1:c.408A>G	XP_016864778.1:p.Gly136=
XM_017009290.2:c.-117A>G	XP_016864779.1:n.-117A>G
XM_017009291.1:c.-117A>G	XP_016864780.1:n.-117A>G
XM_017009292.1:c.-117A>G	XP_016864781.1:n.-117A>G
NM_012208.4:c.618A>G MANE Select	NP_036340.1:p.Gly206=
NM_001278731.2:c.543A>G	NP_001265660.1:p.Gly181=
NM_001278732.2:c.186A>G	NP_001265661.1:p.Gly62=
NM_001363535.2:c.636A>G	NP_001350464.1:p.Gly212=
NM_001363536.2:c.408A>G	NP_001350465.1:p.Gly136=