Canonical Allele Identifier: CA16141818
Gene: LARS2 HGNC NCBI

Linked Data

dbSNP Id: rs9825041
gnomAD v2: 3-45475993-A-G
gnomAD v3: 3-45434501-A-G
gnomAD v4: 3-45434501-A-G
MyVariant Identifiers: chr3:g.45475993A>G (hg19) chr3:g.45434501A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45434501A>G , CM000665.2:g.45434501A>G GRCh38
NC_000003.11:g.45475993A>G , CM000665.1:g.45475993A>G GRCh37
NC_000003.10:g.45450997A>G NCBI36
NG_033907.1:g.50919A>G
NG_033907.2:g.50919A>G
NG_033907.3:g.50938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.517-12390A>G ENSP00000265537.4:n.517-12390A>G
ENST00000642274.1:c.517-12390A>G ENSP00000495707.1:n.517-12390A>G
ENST00000645846.2:c.517-12390A>G MANE Select ENSP00000495093.1:n.517-12390A>G
ENST00000650792.2:c.517-12390A>G ENSP00000498867.1:n.517-12390A>G
ENST00000651549.1:c.517-12390A>G ENSP00000499002.1:n.517-12390A>G
ENST00000652135.1:c.*385-12390A>G ENSP00000499104.1:n.*385-12390A>G
ENST00000265537.7:c.517-12390A>G ENSP00000265537.3:n.517-12390A>G
ENST00000414984.5:c.388-12390A>G ENSP00000412893.1:n.388-12390A>G
ENST00000415258.5:c.517-12390A>G ENSP00000408576.1:n.517-12390A>G
ENST00000431023.5:c.388-12390A>G ENSP00000406611.1:n.388-12390A>G
NM_015340.3:c.517-12390A>G NP_056155.1:n.517-12390A>G
XM_005265006.1:c.517-12390A>G XP_005265063.1:n.517-12390A>G
XM_011533554.1:c.517-12390A>G XP_011531856.1:n.517-12390A>G
XM_005265006.2:c.517-12390A>G XP_005265063.1:n.517-12390A>G
XM_011533554.2:c.517-12390A>G XP_011531856.1:n.517-12390A>G
XM_017006042.1:c.517-12390A>G XP_016861531.1:n.517-12390A>G
NM_015340.4:c.517-12390A>G MANE Select NP_056155.1:n.517-12390A>G
NM_001368263.1:c.517-12390A>G NP_001355192.1:n.517-12390A>G
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