Canonical Allele Identifier: CA2349460
Gene: LARS2 HGNC NCBI

Linked Data

dbSNP Id: rs756182074
gnomAD v2: 3-45518054-A-G
gnomAD v4: 3-45476562-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45476562A>G , CM000665.2:g.45476562A>G GRCh38
NC_000003.11:g.45518054A>G , CM000665.1:g.45518054A>G GRCh37
NC_000003.10:g.45493058A>G NCBI36
NG_033907.1:g.92980A>G
NG_033907.2:g.92980A>G
NG_033907.3:g.92999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.953A>G ENSP00000265537.4:p.His318Arg
ENST00000642274.1:c.953A>G ENSP00000495707.1:p.His318Arg
ENST00000645846.2:c.953A>G MANE Select ENSP00000495093.1:p.His318Arg
ENST00000650792.2:c.953A>G ENSP00000498867.1:p.His318Arg
ENST00000651549.1:c.953A>G ENSP00000499002.1:p.His318Arg
ENST00000652135.1:c.*821A>G ENSP00000499104.1:n.*821A>G
ENST00000265537.7:c.953A>G ENSP00000265537.3:p.His318Arg
ENST00000414984.5:c.824A>G ENSP00000412893.1:p.His275Arg
ENST00000415258.5:c.953A>G ENSP00000408576.1:p.His318Arg
NM_015340.3:c.953A>G NP_056155.1:p.His318Arg
XM_005265006.1:c.953A>G XP_005265063.1:p.His318Arg
XM_011533554.1:c.953A>G XP_011531856.1:p.His318Arg
XM_005265006.2:c.953A>G XP_005265063.1:p.His318Arg
XM_011533554.2:c.953A>G XP_011531856.1:p.His318Arg
XM_017006042.1:c.953A>G XP_016861531.1:p.His318Arg
NM_015340.4:c.953A>G MANE Select NP_056155.1:p.His318Arg
NM_001368263.1:c.953A>G NP_001355192.1:p.His318Arg