Canonical Allele Identifier: CA2349445
Gene: LARS2 HGNC NCBI

Linked Data

dbSNP Id: rs771430197
gnomAD v2: 3-45517996-T-C
gnomAD v3: 3-45476504-T-C
gnomAD v4: 3-45476504-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45476504T>C , CM000665.2:g.45476504T>C GRCh38
NC_000003.11:g.45517996T>C , CM000665.1:g.45517996T>C GRCh37
NC_000003.10:g.45493000T>C NCBI36
NG_033907.1:g.92922T>C
NG_033907.2:g.92922T>C
NG_033907.3:g.92941T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.895T>C ENSP00000265537.4:p.Tyr299His
ENST00000642274.1:c.895T>C ENSP00000495707.1:p.Tyr299His
ENST00000645846.2:c.895T>C MANE Select ENSP00000495093.1:p.Tyr299His
ENST00000650792.2:c.895T>C ENSP00000498867.1:p.Tyr299His
ENST00000651549.1:c.895T>C ENSP00000499002.1:p.Tyr299His
ENST00000652135.1:c.*763T>C ENSP00000499104.1:n.*763T>C
ENST00000265537.7:c.895T>C ENSP00000265537.3:p.Tyr299His
ENST00000414984.5:c.766T>C ENSP00000412893.1:p.Tyr256His
ENST00000415258.5:c.895T>C ENSP00000408576.1:p.Tyr299His
NM_015340.3:c.895T>C NP_056155.1:p.Tyr299His
XM_005265006.1:c.895T>C XP_005265063.1:p.Tyr299His
XM_011533554.1:c.895T>C XP_011531856.1:p.Tyr299His
XM_005265006.2:c.895T>C XP_005265063.1:p.Tyr299His
XM_011533554.2:c.895T>C XP_011531856.1:p.Tyr299His
XM_017006042.1:c.895T>C XP_016861531.1:p.Tyr299His
NM_015340.4:c.895T>C MANE Select NP_056155.1:p.Tyr299His
NM_001368263.1:c.895T>C NP_001355192.1:p.Tyr299His