Canonical Allele Identifier: CA2349642
Gene: LARS2 HGNC NCBI
LARS2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs756751096
gnomAD v2: 3-45537849-C-T
gnomAD v3: 3-45496357-C-T
gnomAD v4: 3-45496357-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45496357C>T , CM000665.2:g.45496357C>T GRCh38
NC_000003.11:g.45537849C>T , CM000665.1:g.45537849C>T GRCh37
NC_000003.10:g.45512853C>T NCBI36
NG_033907.1:g.112775C>T
NG_033907.2:g.112775C>T
NG_033907.3:g.112794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.1606C>T (LARS2) ENSP00000265537.4:p.Pro536Ser
ENST00000642274.1:c.1606C>T (LARS2) ENSP00000495707.1:p.Pro536Ser
ENST00000645846.2:c.1606C>T (LARS2) MANE Select ENSP00000495093.1:p.Pro536Ser
ENST00000650792.2:c.1606C>T (LARS2) ENSP00000498867.1:p.Pro536Ser
ENST00000651549.1:c.1606C>T (LARS2) ENSP00000499002.1:p.Pro536Ser
ENST00000652135.1:c.*1474C>T (LARS2) ENSP00000499104.1:n.*1474C>T
ENST00000265537.7:c.1606C>T (LARS2) ENSP00000265537.3:p.Pro536Ser
ENST00000414984.5:c.1477C>T (LARS2) ENSP00000412893.1:p.Pro493Ser
ENST00000415258.5:c.1606C>T (LARS2) ENSP00000408576.1:p.Pro536Ser
NM_015340.3:c.1606C>T (LARS2) NP_056155.1:p.Pro536Ser
NR_048543.1:n.261-857G>A (LARS2-AS1)
XM_005265006.1:c.1606C>T (LARS2) XP_005265063.1:p.Pro536Ser
XM_011533554.1:c.1606C>T (LARS2) XP_011531856.1:p.Pro536Ser
XM_005265006.2:c.1606C>T (LARS2) XP_005265063.1:p.Pro536Ser
XM_011533554.2:c.1606C>T (LARS2) XP_011531856.1:p.Pro536Ser
XM_017006042.1:c.1606C>T (LARS2) XP_016861531.1:p.Pro536Ser
NM_015340.4:c.1606C>T (LARS2) MANE Select NP_056155.1:p.Pro536Ser
NM_001368263.1:c.1606C>T (LARS2) NP_001355192.1:p.Pro536Ser