Canonical Allele Identifier: CA352426800

Gene: LARS2 LARS2-AS1

Linked Data

• gnomAD v4: 3-45496344-C-G
• MyVariant Identifiers: chr3:g.45537836C>G (hg19) ; chr3:g.45496344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45496344C>G , CM000665.2:g.45496344C>G	GRCh38
NC_000003.11:g.45537836C>G , CM000665.1:g.45537836C>G	GRCh37
NC_000003.10:g.45512840C>G	NCBI36
NG_033907.1:g.112762C>G
NG_033907.2:g.112762C>G
NG_033907.3:g.112781C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.1593C>G (LARS2)	ENSP00000265537.4:p.Phe531Leu
ENST00000642274.1:c.1593C>G (LARS2)	ENSP00000495707.1:p.Phe531Leu
ENST00000645846.2:c.1593C>G (LARS2) MANE Select	ENSP00000495093.1:p.Phe531Leu
ENST00000650792.2:c.1593C>G (LARS2)	ENSP00000498867.1:p.Phe531Leu
ENST00000651549.1:c.1593C>G (LARS2)	ENSP00000499002.1:p.Phe531Leu
ENST00000652135.1:c.*1461C>G (LARS2)	ENSP00000499104.1:n.*1461C>G
ENST00000265537.7:c.1593C>G (LARS2)	ENSP00000265537.3:p.Phe531Leu
ENST00000414984.5:c.1464C>G (LARS2)	ENSP00000412893.1:p.Phe488Leu
ENST00000415258.5:c.1593C>G (LARS2)	ENSP00000408576.1:p.Phe531Leu
NM_015340.3:c.1593C>G (LARS2)	NP_056155.1:p.Phe531Leu
NR_048543.1:n.261-844G>C (LARS2-AS1)
XM_005265006.1:c.1593C>G (LARS2)	XP_005265063.1:p.Phe531Leu
XM_011533554.1:c.1593C>G (LARS2)	XP_011531856.1:p.Phe531Leu
XM_005265006.2:c.1593C>G (LARS2)	XP_005265063.1:p.Phe531Leu
XM_011533554.2:c.1593C>G (LARS2)	XP_011531856.1:p.Phe531Leu
XM_017006042.1:c.1593C>G (LARS2)	XP_016861531.1:p.Phe531Leu
NM_015340.4:c.1593C>G (LARS2) MANE Select	NP_056155.1:p.Phe531Leu
NM_001368263.1:c.1593C>G (LARS2)	NP_001355192.1:p.Phe531Leu