Canonical Allele Identifier: CA278776
Gene: LARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 203991
ClinVar RCV Id: RCV000203255 RCV000203256
dbSNP Id: rs864309643
gnomAD v4: 3-45516144-G-A
MyVariant Identifiers: chr3:g.45557636G>A (hg19) chr3:g.45516144G>A (hg38)
PubMed: PMID:26657938
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45516144G>A , CM000665.2:g.45516144G>A GRCh38
NC_000003.11:g.45557636G>A , CM000665.1:g.45557636G>A GRCh37
NC_000003.10:g.45532640G>A NCBI36
NG_033907.1:g.132562G>A
NG_033907.2:g.132562G>A
NG_033907.3:g.132581G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265537.8:c.*302G>A ENSP00000265537.4:n.*302G>A
ENST00000642274.1:c.1912G>A ENSP00000495707.1:p.Glu638Lys
ENST00000645846.2:c.1912G>A MANE Select ENSP00000495093.1:p.Glu638Lys
ENST00000650792.2:c.1912G>A ENSP00000498867.1:p.Glu638Lys
ENST00000651549.1:c.*202G>A ENSP00000499002.1:n.*202G>A
ENST00000652135.1:c.*1780G>A ENSP00000499104.1:n.*1780G>A
ENST00000265537.7:c.1912G>A ENSP00000265537.3:p.Glu638Lys
ENST00000414984.5:c.1783G>A ENSP00000412893.1:p.Glu595Lys
ENST00000415258.5:c.1912G>A ENSP00000408576.1:p.Glu638Lys
ENST00000467936.5:n.191G>A
NM_015340.3:c.1912G>A NP_056155.1:p.Glu638Lys
XM_005265006.1:c.1912G>A XP_005265063.1:p.Glu638Lys
XM_011533554.1:c.1912G>A XP_011531856.1:p.Glu638Lys
XM_005265006.2:c.1912G>A XP_005265063.1:p.Glu638Lys
XM_011533554.2:c.1912G>A XP_011531856.1:p.Glu638Lys
XM_017006042.1:c.1912G>A XP_016861531.1:p.Glu638Lys
NM_015340.4:c.1912G>A MANE Select NP_056155.1:p.Glu638Lys
NM_001368263.1:c.1912G>A NP_001355192.1:p.Glu638Lys
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