Canonical Allele Identifier: CA352423886

Gene: LARS2

Linked Data

• ClinVar Variation Id: 1939182
• ClinVar RCV Id: RCV002666679
• MyVariant Identifiers: chr3:g.45518074A>G (hg19) ; chr3:g.45476582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476582A>G , CM000665.2:g.45476582A>G	GRCh38
NC_000003.11:g.45518074A>G , CM000665.1:g.45518074A>G	GRCh37
NC_000003.10:g.45493078A>G	NCBI36
NG_033907.1:g.93000A>G
NG_033907.2:g.93000A>G
NG_033907.3:g.93019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.973A>G	ENSP00000265537.4:p.Ser325Gly
ENST00000642274.1:c.973A>G	ENSP00000495707.1:p.Ser325Gly
ENST00000645846.2:c.973A>G MANE Select	ENSP00000495093.1:p.Ser325Gly
ENST00000650792.2:c.973A>G	ENSP00000498867.1:p.Ser325Gly
ENST00000651549.1:c.973A>G	ENSP00000499002.1:p.Ser325Gly
ENST00000652135.1:c.*841A>G	ENSP00000499104.1:n.*841A>G
ENST00000265537.7:c.973A>G	ENSP00000265537.3:p.Ser325Gly
ENST00000414984.5:c.844A>G	ENSP00000412893.1:p.Ser282Gly
ENST00000415258.5:c.973A>G	ENSP00000408576.1:p.Ser325Gly
NM_015340.3:c.973A>G	NP_056155.1:p.Ser325Gly
XM_005265006.1:c.973A>G	XP_005265063.1:p.Ser325Gly
XM_011533554.1:c.973A>G	XP_011531856.1:p.Ser325Gly
XM_005265006.2:c.973A>G	XP_005265063.1:p.Ser325Gly
XM_011533554.2:c.973A>G	XP_011531856.1:p.Ser325Gly
XM_017006042.1:c.973A>G	XP_016861531.1:p.Ser325Gly
NM_015340.4:c.973A>G MANE Select	NP_056155.1:p.Ser325Gly
NM_001368263.1:c.973A>G	NP_001355192.1:p.Ser325Gly