Canonical Allele Identifier: CA352423846
Gene: LARS2 HGNC NCBI

Linked Data

gnomAD v4: 3-45476571-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45476571T>C , CM000665.2:g.45476571T>C GRCh38
NC_000003.11:g.45518063T>C , CM000665.1:g.45518063T>C GRCh37
NC_000003.10:g.45493067T>C NCBI36
NG_033907.1:g.92989T>C
NG_033907.2:g.92989T>C
NG_033907.3:g.93008T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.962T>C ENSP00000265537.4:p.Leu321Pro
ENST00000642274.1:c.962T>C ENSP00000495707.1:p.Leu321Pro
ENST00000645846.2:c.962T>C MANE Select ENSP00000495093.1:p.Leu321Pro
ENST00000650792.2:c.962T>C ENSP00000498867.1:p.Leu321Pro
ENST00000651549.1:c.962T>C ENSP00000499002.1:p.Leu321Pro
ENST00000652135.1:c.*830T>C ENSP00000499104.1:n.*830T>C
ENST00000265537.7:c.962T>C ENSP00000265537.3:p.Leu321Pro
ENST00000414984.5:c.833T>C ENSP00000412893.1:p.Leu278Pro
ENST00000415258.5:c.962T>C ENSP00000408576.1:p.Leu321Pro
NM_015340.3:c.962T>C NP_056155.1:p.Leu321Pro
XM_005265006.1:c.962T>C XP_005265063.1:p.Leu321Pro
XM_011533554.1:c.962T>C XP_011531856.1:p.Leu321Pro
XM_005265006.2:c.962T>C XP_005265063.1:p.Leu321Pro
XM_011533554.2:c.962T>C XP_011531856.1:p.Leu321Pro
XM_017006042.1:c.962T>C XP_016861531.1:p.Leu321Pro
NM_015340.4:c.962T>C MANE Select NP_056155.1:p.Leu321Pro
NM_001368263.1:c.962T>C NP_001355192.1:p.Leu321Pro