Canonical Allele Identifier: CA352426778
Gene: LARS2 HGNC NCBI
LARS2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1431698381
gnomAD v2: 3-45537828-T-C
gnomAD v4: 3-45496336-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45496336T>C , CM000665.2:g.45496336T>C GRCh38
NC_000003.11:g.45537828T>C , CM000665.1:g.45537828T>C GRCh37
NC_000003.10:g.45512832T>C NCBI36
NG_033907.1:g.112754T>C
NG_033907.2:g.112754T>C
NG_033907.3:g.112773T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.1585T>C (LARS2) ENSP00000265537.4:p.Tyr529His
ENST00000642274.1:c.1585T>C (LARS2) ENSP00000495707.1:p.Tyr529His
ENST00000645846.2:c.1585T>C (LARS2) MANE Select ENSP00000495093.1:p.Tyr529His
ENST00000650792.2:c.1585T>C (LARS2) ENSP00000498867.1:p.Tyr529His
ENST00000651549.1:c.1585T>C (LARS2) ENSP00000499002.1:p.Tyr529His
ENST00000652135.1:c.*1453T>C (LARS2) ENSP00000499104.1:n.*1453T>C
ENST00000265537.7:c.1585T>C (LARS2) ENSP00000265537.3:p.Tyr529His
ENST00000414984.5:c.1456T>C (LARS2) ENSP00000412893.1:p.Tyr486His
ENST00000415258.5:c.1585T>C (LARS2) ENSP00000408576.1:p.Tyr529His
NM_015340.3:c.1585T>C (LARS2) NP_056155.1:p.Tyr529His
NR_048543.1:n.261-836A>G (LARS2-AS1)
XM_005265006.1:c.1585T>C (LARS2) XP_005265063.1:p.Tyr529His
XM_011533554.1:c.1585T>C (LARS2) XP_011531856.1:p.Tyr529His
XM_005265006.2:c.1585T>C (LARS2) XP_005265063.1:p.Tyr529His
XM_011533554.2:c.1585T>C (LARS2) XP_011531856.1:p.Tyr529His
XM_017006042.1:c.1585T>C (LARS2) XP_016861531.1:p.Tyr529His
NM_015340.4:c.1585T>C (LARS2) MANE Select NP_056155.1:p.Tyr529His
NM_001368263.1:c.1585T>C (LARS2) NP_001355192.1:p.Tyr529His