Canonical Allele Identifier: CA73581400

Gene: LARS2

Linked Data

• dbSNP Id: rs537811830
• gnomAD v3: 3-45476538-C-G
• gnomAD v4: 3-45476538-C-G
• MyVariant Identifiers: chr3:g.45518030C>G (hg19) ; chr3:g.45476538C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476538C>G , CM000665.2:g.45476538C>G	GRCh38
NC_000003.11:g.45518030C>G , CM000665.1:g.45518030C>G	GRCh37
NC_000003.10:g.45493034C>G	NCBI36
NG_033907.1:g.92956C>G
NG_033907.2:g.92956C>G
NG_033907.3:g.92975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.929C>G	ENSP00000265537.4:p.Ser310Cys
ENST00000642274.1:c.929C>G	ENSP00000495707.1:p.Ser310Cys
ENST00000645846.2:c.929C>G MANE Select	ENSP00000495093.1:p.Ser310Cys
ENST00000650792.2:c.929C>G	ENSP00000498867.1:p.Ser310Cys
ENST00000651549.1:c.929C>G	ENSP00000499002.1:p.Ser310Cys
ENST00000652135.1:c.*797C>G	ENSP00000499104.1:n.*797C>G
ENST00000265537.7:c.929C>G	ENSP00000265537.3:p.Ser310Cys
ENST00000414984.5:c.800C>G	ENSP00000412893.1:p.Ser267Cys
ENST00000415258.5:c.929C>G	ENSP00000408576.1:p.Ser310Cys
NM_015340.3:c.929C>G	NP_056155.1:p.Ser310Cys
XM_005265006.1:c.929C>G	XP_005265063.1:p.Ser310Cys
XM_011533554.1:c.929C>G	XP_011531856.1:p.Ser310Cys
XM_005265006.2:c.929C>G	XP_005265063.1:p.Ser310Cys
XM_011533554.2:c.929C>G	XP_011531856.1:p.Ser310Cys
XM_017006042.1:c.929C>G	XP_016861531.1:p.Ser310Cys
NM_015340.4:c.929C>G MANE Select	NP_056155.1:p.Ser310Cys
NM_001368263.1:c.929C>G	NP_001355192.1:p.Ser310Cys