Canonical Allele Identifier: CA1361707587
Community Standard Title: NM_015340.4(LARS2):c.2263C= (p.Gln755=)
Gene: LARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45520267C= , CM000665.2:g.45520267C= GRCh38
NC_000003.11:g.45561759C= , CM000665.1:g.45561759C= GRCh37
NC_000003.10:g.45536763C= NCBI36
NG_033907.1:g.136685C=
NG_033907.2:g.136685C=
NG_033907.3:g.136704C=

Transcript Alleles

HGVS Amino-acid Change
NM_015340.4:c.2263C= MANE Select NP_056155.1:p.Gln755=
ENST00000645846.2:c.2263C= MANE Select ENSP00000495093.1:p.Gln755=
NM_001368263.1:c.2263C= NP_001355192.1:p.Gln755=
NM_015340.3:c.2263C= NP_056155.1:p.Gln755=
ENST00000265537.7:c.2263C= ENSP00000265537.3:p.Gln755=
ENST00000265537.8:c.*653C= ENSP00000265537.4:n.*653C=
ENST00000414984.5:c.2134C= ENSP00000412893.1:p.Gln712=
ENST00000415258.5:c.2263C= ENSP00000408576.1:p.Gln755=
ENST00000467936.5:n.542C=
ENST00000485461.1:n.257C=
ENST00000642274.1:c.2263C= ENSP00000495707.1:p.Gln755=
ENST00000650792.2:c.2263C= ENSP00000498867.1:p.Gln755=
ENST00000651549.1:c.*553C= ENSP00000499002.1:n.*553C=
ENST00000652135.1:c.*2131C= ENSP00000499104.1:n.*2131C=
XM_005265006.1:c.2263C= XP_005265063.1:p.Gln755=
XM_005265006.2:c.2263C= XP_005265063.1:p.Gln755=
XM_011533554.1:c.2263C= XP_011531856.1:p.Gln755=
XM_011533554.2:c.2263C= XP_011531856.1:p.Gln755=
XM_017006042.1:c.2263C= XP_016861531.1:p.Gln755=