Canonical Allele Identifier: CA2349908
Community Standard Title: NM_015340.4(LARS2):c.2490G>A (p.Pro830=)
Gene: LARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45541914G>A , CM000665.2:g.45541914G>A GRCh38
NC_000003.11:g.45583406G>A , CM000665.1:g.45583406G>A GRCh37
NC_000003.10:g.45558410G>A NCBI36
NG_033907.1:g.158332G>A
NG_033907.2:g.158332G>A
NG_033907.3:g.158351G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015340.4:c.2490G>A MANE Select NP_056155.1:p.Pro830=
ENST00000645846.2:c.2490G>A MANE Select ENSP00000495093.1:p.Pro830=
NM_001368263.1:c.2490G>A NP_001355192.1:p.Pro830=
NM_015340.3:c.2490G>A NP_056155.1:p.Pro830=
ENST00000265537.7:c.2490G>A ENSP00000265537.3:p.Pro830=
ENST00000265537.8:c.*880G>A ENSP00000265537.4:n.*880G>A
ENST00000414984.5:c.2361G>A ENSP00000412893.1:p.Pro787=
ENST00000415258.5:c.2490G>A ENSP00000408576.1:p.Pro830=
ENST00000474585.1:n.321G>A
ENST00000485461.1:n.484G>A
ENST00000642274.1:c.2490G>A ENSP00000495707.1:p.Pro830=
ENST00000650792.2:c.2490G>A ENSP00000498867.1:p.Pro830=
ENST00000651549.1:c.*780G>A ENSP00000499002.1:n.*780G>A
XM_005265006.1:c.2490G>A XP_005265063.1:p.Pro830=
XM_005265006.2:c.2490G>A XP_005265063.1:p.Pro830=
XM_017006042.1:c.2405-5437G>A XP_016861531.1:n.2405-5437G>A