Canonical Allele Identifier: CA3444474

Gene: HARS2

Linked Data

• dbSNP Id: rs202210288
• ExAC: 5:140075410 T / C
• gnomAD v2: 5-140075410-T-C
• gnomAD v3: 5-140695825-T-C
• gnomAD v4: 5-140695825-T-C
• MyVariant Identifiers: chr5:g.140075410T>C (hg19) ; chr5:g.140695825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695825T>C , CM000667.2:g.140695825T>C	GRCh38
NC_000005.9:g.140075410T>C , CM000667.1:g.140075410T>C	GRCh37
NC_000005.8:g.140055594T>C	NCBI36
NG_021415.1:g.9393T>C
NG_032158.1:g.562A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.613T>C MANE Select	ENSP00000230771.3:p.Leu205=
ENST00000503873.6:c.391T>C	ENSP00000424516.2:p.Leu131=
ENST00000509299.6:c.403T>C	ENSP00000425695.2:p.Leu135=
ENST00000520095.6:c.*191T>C	ENSP00000429220.1:n.*191T>C
ENST00000642452.1:c.579T>C
ENST00000642752.1:c.613T>C	ENSP00000493630.1:p.Leu205=
ENST00000642970.1:c.403T>C	ENSP00000496011.1:p.Leu135=
ENST00000643996.1:c.403T>C	ENSP00000495350.1:p.Leu135=
ENST00000645065.1:c.631T>C	ENSP00000493571.1:p.Leu211=
ENST00000645749.1:c.613T>C	ENSP00000494296.1:p.Leu205=
ENST00000646468.1:c.631T>C	ENSP00000494965.1:p.Leu211=
ENST00000647484.1:c.403T>C	ENSP00000494140.1:p.Leu135=
ENST00000230771.7:c.613T>C	ENSP00000230771.3:p.Leu205=
ENST00000448069.2:c.196T>C	ENSP00000407105.2:p.Leu66=
ENST00000508522.5:c.538T>C	ENSP00000423616.1:p.Leu180=
ENST00000510104.5:c.*413T>C	ENSP00000423530.1:n.*413T>C
ENST00000513688.1:n.620T>C
NM_001278731.1:c.538T>C	NP_001265660.1:p.Leu180=
NM_001278732.1:c.181T>C	NP_001265661.1:p.Leu61=
NM_012208.3:c.613T>C	NP_036340.1:p.Leu205=
XM_011537619.1:c.631T>C	XP_011535921.1:p.Leu211=
XM_011537620.1:c.631T>C	XP_011535922.1:p.Leu211=
NM_001363535.1:c.631T>C	NP_001350464.1:p.Leu211=
NM_001363536.1:c.403T>C	NP_001350465.1:p.Leu135=
XM_017009288.1:c.403T>C	XP_016864777.1:p.Leu135=
XM_017009289.1:c.403T>C	XP_016864778.1:p.Leu135=
XM_017009290.2:c.-122T>C	XP_016864779.1:n.-122T>C
XM_017009291.1:c.-122T>C	XP_016864780.1:n.-122T>C
XM_017009292.1:c.-122T>C	XP_016864781.1:n.-122T>C
NM_012208.4:c.613T>C MANE Select	NP_036340.1:p.Leu205=
NM_001278731.2:c.538T>C	NP_001265660.1:p.Leu180=
NM_001278732.2:c.181T>C	NP_001265661.1:p.Leu61=
NM_001363535.2:c.631T>C	NP_001350464.1:p.Leu211=
NM_001363536.2:c.403T>C	NP_001350465.1:p.Leu135=