Canonical Allele Identifier: CA320300

Gene: HARS2

Linked Data

• ClinVar Variation Id: 214547
• ClinVar RCV Id: RCV000195916 ; RCV000767025 ; RCV002500613 ; RCV003955189
• dbSNP Id: rs61736946
• ExAC: 5:140076899 G / C
• gnomAD v2: 5-140076899-G-C
• gnomAD v3: 5-140697314-G-C
• gnomAD v4: 5-140697314-G-C
• MyVariant Identifiers: chr5:g.140076899G>C (hg19) ; chr5:g.140697314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140697314G>C , CM000667.2:g.140697314G>C	GRCh38
NC_000005.9:g.140076899G>C , CM000667.1:g.140076899G>C	GRCh37
NC_000005.8:g.140057083G>C	NCBI36
NG_021415.1:g.10882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.1105G>C MANE Select	ENSP00000230771.3:p.Gly369Arg
ENST00000503873.6:c.784G>C	ENSP00000424516.2:p.Gly262Arg
ENST00000520095.6:c.*683G>C	ENSP00000429220.1:n.*683G>C
ENST00000642452.1:c.1145G>C
ENST00000642752.1:c.1006G>C	ENSP00000493630.1:p.Gly336Arg
ENST00000642970.1:c.895G>C	ENSP00000496011.1:p.Gly299Arg
ENST00000643996.1:c.895G>C	ENSP00000495350.1:p.Gly299Arg
ENST00000645065.1:c.1123G>C	ENSP00000493571.1:p.Gly375Arg
ENST00000645749.1:c.1105G>C	ENSP00000494296.1:p.Gly369Arg
ENST00000646468.1:c.1123G>C	ENSP00000494965.1:p.Gly375Arg
ENST00000647484.1:c.*486G>C	ENSP00000494140.1:n.*486G>C
ENST00000230771.7:c.1105G>C	ENSP00000230771.3:p.Gly369Arg
ENST00000448069.2:c.589G>C	ENSP00000407105.2:p.Gly197Arg
ENST00000508522.5:c.1030G>C	ENSP00000423616.1:p.Gly344Arg
NM_001278731.1:c.1030G>C	NP_001265660.1:p.Gly344Arg
NM_001278732.1:c.673G>C	NP_001265661.1:p.Gly225Arg
NM_012208.3:c.1105G>C	NP_036340.1:p.Gly369Arg
XM_011537619.1:c.1123G>C	XP_011535921.1:p.Gly375Arg
XM_011537620.1:c.1024G>C	XP_011535922.1:p.Gly342Arg
NM_001363535.1:c.1123G>C	NP_001350464.1:p.Gly375Arg
NM_001363536.1:c.895G>C	NP_001350465.1:p.Gly299Arg
XM_017009288.1:c.895G>C	XP_016864777.1:p.Gly299Arg
XM_017009289.1:c.895G>C	XP_016864778.1:p.Gly299Arg
XM_017009290.2:c.445G>C	XP_016864779.1:p.Gly149Arg
XM_017009291.1:c.445G>C	XP_016864780.1:p.Gly149Arg
XM_017009292.1:c.445G>C	XP_016864781.1:p.Gly149Arg
NM_012208.4:c.1105G>C MANE Select	NP_036340.1:p.Gly369Arg
NM_001278731.2:c.1030G>C	NP_001265660.1:p.Gly344Arg
NM_001278732.2:c.673G>C	NP_001265661.1:p.Gly225Arg
NM_001363535.2:c.1123G>C	NP_001350464.1:p.Gly375Arg
NM_001363536.2:c.895G>C	NP_001350465.1:p.Gly299Arg