Canonical Allele Identifier: CA343806
Gene: HARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39620
ClinVar RCV Id: RCV000032820 RCV002468984 RCV002513308
dbSNP Id: rs397515410
gnomAD v2: 5-140075395-C-G
MyVariant Identifiers: chr5:g.140075395C>G (hg19) chr5:g.140695810C>G (hg38)
PubMed: PMID:517579 PMID:21464306
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140695810C>G , CM000667.2:g.140695810C>G GRCh38
NC_000005.9:g.140075395C>G , CM000667.1:g.140075395C>G GRCh37
NC_000005.8:g.140055579C>G NCBI36
NG_021415.1:g.9378C>G
NG_032158.1:g.577G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230771.9:c.598C>G MANE Select ENSP00000230771.3:p.Leu200Val
ENST00000503873.6:c.376C>G ENSP00000424516.2:p.Leu126Val
ENST00000509299.6:c.388C>G ENSP00000425695.2:p.Leu130Val
ENST00000520095.6:c.*176C>G ENSP00000429220.1:n.*176C>G
ENST00000642452.1:c.564C>G
ENST00000642752.1:c.598C>G ENSP00000493630.1:p.Leu200Val
ENST00000642970.1:c.388C>G ENSP00000496011.1:p.Leu130Val
ENST00000643996.1:c.388C>G ENSP00000495350.1:p.Leu130Val
ENST00000645065.1:c.616C>G ENSP00000493571.1:p.Leu206Val
ENST00000645749.1:c.598C>G ENSP00000494296.1:p.Leu200Val
ENST00000646468.1:c.616C>G ENSP00000494965.1:p.Leu206Val
ENST00000647484.1:c.388C>G ENSP00000494140.1:p.Leu130Val
ENST00000230771.7:c.598C>G ENSP00000230771.3:p.Leu200Val
ENST00000448069.2:c.181C>G ENSP00000407105.2:p.Leu61Val
ENST00000508522.5:c.523C>G ENSP00000423616.1:p.Leu175Val
ENST00000510104.5:c.*398C>G ENSP00000423530.1:n.*398C>G
ENST00000513688.1:n.605C>G
NM_001278731.1:c.523C>G NP_001265660.1:p.Leu175Val
NM_001278732.1:c.166C>G NP_001265661.1:p.Leu56Val
NM_012208.3:c.598C>G NP_036340.1:p.Leu200Val
XM_011537619.1:c.616C>G XP_011535921.1:p.Leu206Val
XM_011537620.1:c.616C>G XP_011535922.1:p.Leu206Val
NM_001363535.1:c.616C>G NP_001350464.1:p.Leu206Val
NM_001363536.1:c.388C>G NP_001350465.1:p.Leu130Val
XM_017009288.1:c.388C>G XP_016864777.1:p.Leu130Val
XM_017009289.1:c.388C>G XP_016864778.1:p.Leu130Val
XM_017009290.2:c.-137C>G XP_016864779.1:n.-137C>G
XM_017009291.1:c.-137C>G XP_016864780.1:n.-137C>G
XM_017009292.1:c.-137C>G XP_016864781.1:n.-137C>G
NM_012208.4:c.598C>G MANE Select NP_036340.1:p.Leu200Val
NM_001278731.2:c.523C>G NP_001265660.1:p.Leu175Val
NM_001278732.2:c.166C>G NP_001265661.1:p.Leu56Val
NM_001363535.2:c.616C>G NP_001350464.1:p.Leu206Val
NM_001363536.2:c.388C>G NP_001350465.1:p.Leu130Val
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