Canonical Allele Identifier: CA2349637

Gene: LARS2 LARS2-AS1

Linked Data

• ClinVar Variation Id: 226694
• ClinVar RCV Id: RCV000217610 ; RCV000993588 ; RCV000950101
• dbSNP Id: rs116826217
• ExAC: 3:45537795 G / A
• gnomAD v2: 3-45537795-G-A
• gnomAD v3: 3-45496303-G-A
• gnomAD v4: 3-45496303-G-A
• MyVariant Identifiers: chr3:g.45537795G>A (hg19) ; chr3:g.45496303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45496303G>A , CM000665.2:g.45496303G>A	GRCh38
NC_000003.11:g.45537795G>A , CM000665.1:g.45537795G>A	GRCh37
NC_000003.10:g.45512799G>A	NCBI36
NG_033907.1:g.112721G>A
NG_033907.2:g.112721G>A
NG_033907.3:g.112740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.1552G>A (LARS2)	ENSP00000265537.4:p.Asp518Asn
ENST00000642274.1:c.1552G>A (LARS2)	ENSP00000495707.1:p.Asp518Asn
ENST00000645846.2:c.1552G>A (LARS2) MANE Select	ENSP00000495093.1:p.Asp518Asn
ENST00000650792.2:c.1552G>A (LARS2)	ENSP00000498867.1:p.Asp518Asn
ENST00000651549.1:c.1552G>A (LARS2)	ENSP00000499002.1:p.Asp518Asn
ENST00000652135.1:c.*1420G>A (LARS2)	ENSP00000499104.1:n.*1420G>A
ENST00000265537.7:c.1552G>A (LARS2)	ENSP00000265537.3:p.Asp518Asn
ENST00000414984.5:c.1423G>A (LARS2)	ENSP00000412893.1:p.Asp475Asn
ENST00000415258.5:c.1552G>A (LARS2)	ENSP00000408576.1:p.Asp518Asn
NM_015340.3:c.1552G>A (LARS2)	NP_056155.1:p.Asp518Asn
NR_048543.1:n.261-803C>T (LARS2-AS1)
XM_005265006.1:c.1552G>A (LARS2)	XP_005265063.1:p.Asp518Asn
XM_011533554.1:c.1552G>A (LARS2)	XP_011531856.1:p.Asp518Asn
XM_005265006.2:c.1552G>A (LARS2)	XP_005265063.1:p.Asp518Asn
XM_011533554.2:c.1552G>A (LARS2)	XP_011531856.1:p.Asp518Asn
XM_017006042.1:c.1552G>A (LARS2)	XP_016861531.1:p.Asp518Asn
NM_015340.4:c.1552G>A (LARS2) MANE Select	NP_056155.1:p.Asp518Asn
NM_001368263.1:c.1552G>A (LARS2)	NP_001355192.1:p.Asp518Asn