Canonical Allele Identifier: CA446804460

Gene: HARS2

Linked Data

• dbSNP Id: rs1339045059
• gnomAD v2: 5-140075424-C-T
• gnomAD v4: 5-140695839-C-T
• MyVariant Identifiers: chr5:g.140075424C>T (hg19) ; chr5:g.140695839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695839C>T , CM000667.2:g.140695839C>T	GRCh38
NC_000005.9:g.140075424C>T , CM000667.1:g.140075424C>T	GRCh37
NC_000005.8:g.140055608C>T	NCBI36
NG_021415.1:g.9407C>T
NG_032158.1:g.548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.627C>T MANE Select	ENSP00000230771.3:p.Leu209=
ENST00000503873.6:c.405C>T	ENSP00000424516.2:p.Leu135=
ENST00000509299.6:c.417C>T	ENSP00000425695.2:p.Leu139=
ENST00000520095.6:c.*205C>T	ENSP00000429220.1:n.*205C>T
ENST00000642452.1:c.593C>T
ENST00000642752.1:c.627C>T	ENSP00000493630.1:p.Leu209=
ENST00000642970.1:c.417C>T	ENSP00000496011.1:p.Leu139=
ENST00000643996.1:c.417C>T	ENSP00000495350.1:p.Leu139=
ENST00000645065.1:c.645C>T	ENSP00000493571.1:p.Leu215=
ENST00000645749.1:c.627C>T	ENSP00000494296.1:p.Leu209=
ENST00000646468.1:c.645C>T	ENSP00000494965.1:p.Leu215=
ENST00000647484.1:c.417C>T	ENSP00000494140.1:p.Leu139=
ENST00000230771.7:c.627C>T	ENSP00000230771.3:p.Leu209=
ENST00000448069.2:c.210C>T	ENSP00000407105.2:p.Leu70=
ENST00000508522.5:c.552C>T	ENSP00000423616.1:p.Leu184=
ENST00000510104.5:c.*427C>T	ENSP00000423530.1:n.*427C>T
ENST00000513688.1:n.634C>T
NM_001278731.1:c.552C>T	NP_001265660.1:p.Leu184=
NM_001278732.1:c.195C>T	NP_001265661.1:p.Leu65=
NM_012208.3:c.627C>T	NP_036340.1:p.Leu209=
XM_011537619.1:c.645C>T	XP_011535921.1:p.Leu215=
XM_011537620.1:c.645C>T	XP_011535922.1:p.Leu215=
NM_001363535.1:c.645C>T	NP_001350464.1:p.Leu215=
NM_001363536.1:c.417C>T	NP_001350465.1:p.Leu139=
XM_017009288.1:c.417C>T	XP_016864777.1:p.Leu139=
XM_017009289.1:c.417C>T	XP_016864778.1:p.Leu139=
XM_017009290.2:c.-108C>T	XP_016864779.1:n.-108C>T
XM_017009291.1:c.-108C>T	XP_016864780.1:n.-108C>T
XM_017009292.1:c.-108C>T	XP_016864781.1:n.-108C>T
NM_012208.4:c.627C>T MANE Select	NP_036340.1:p.Leu209=
NM_001278731.2:c.552C>T	NP_001265660.1:p.Leu184=
NM_001278732.2:c.195C>T	NP_001265661.1:p.Leu65=
NM_001363535.2:c.645C>T	NP_001350464.1:p.Leu215=
NM_001363536.2:c.417C>T	NP_001350465.1:p.Leu139=