Canonical Allele Identifier: CA2349939
Gene: LARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45547365T>C , CM000665.2:g.45547365T>C GRCh38
NC_000003.11:g.45588857T>C , CM000665.1:g.45588857T>C GRCh37
NC_000003.10:g.45563861T>C NCBI36
NG_033907.1:g.163783T>C
NG_033907.2:g.163783T>C
NG_033907.3:g.163802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.*937T>C ENSP00000265537.4:n.*937T>C
ENST00000642274.1:c.2547T>C ENSP00000495707.1:p.Ala849=
ENST00000645846.2:c.2547T>C MANE Select ENSP00000495093.1:p.Ala849=
ENST00000650792.2:c.2547T>C ENSP00000498867.1:p.Ala849=
ENST00000651549.1:c.*837T>C ENSP00000499002.1:n.*837T>C
ENST00000265537.7:c.2547T>C ENSP00000265537.3:p.Ala849=
ENST00000414984.5:c.2418T>C ENSP00000412893.1:p.Ala806=
ENST00000415258.5:c.2547T>C ENSP00000408576.1:p.Ala849=
ENST00000474585.1:n.378T>C
ENST00000485461.1:n.541T>C
NM_015340.3:c.2547T>C NP_056155.1:p.Ala849=
XM_005265006.1:c.2547T>C XP_005265063.1:p.Ala849=
XM_005265006.2:c.2547T>C XP_005265063.1:p.Ala849=
XM_017006042.1:c.*4T>C XP_016861531.1:n.*4T>C
NM_015340.4:c.2547T>C MANE Select NP_056155.1:p.Ala849=
NM_001368263.1:c.2547T>C NP_001355192.1:p.Ala849=