Canonical Allele Identifier: CA229150

Gene: LARS2 LARS2-AS1

Linked Data

• ClinVar Variation Id: 100862
• ClinVar RCV Id: RCV000087224
• dbSNP Id: rs483352739
• COSMIC: COSM5611804
• MyVariant Identifiers: chr3:g.45537827G>C (hg19) ; chr3:g.45496335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45496335G>C , CM000665.2:g.45496335G>C	GRCh38
NC_000003.11:g.45537827G>C , CM000665.1:g.45537827G>C	GRCh37
NC_000003.10:g.45512831G>C	NCBI36
NG_033907.1:g.112753G>C
NG_033907.2:g.112753G>C
NG_033907.3:g.112772G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265537.8:c.1584G>C (LARS2)	ENSP00000265537.4:p.Trp528Cys
ENST00000642274.1:c.1584G>C (LARS2)	ENSP00000495707.1:p.Trp528Cys
ENST00000645846.2:c.1584G>C (LARS2) MANE Select	ENSP00000495093.1:p.Trp528Cys
ENST00000650792.2:c.1584G>C (LARS2)	ENSP00000498867.1:p.Trp528Cys
ENST00000651549.1:c.1584G>C (LARS2)	ENSP00000499002.1:p.Trp528Cys
ENST00000652135.1:c.*1452G>C (LARS2)	ENSP00000499104.1:n.*1452G>C
ENST00000265537.7:c.1584G>C (LARS2)	ENSP00000265537.3:p.Trp528Cys
ENST00000414984.5:c.1455G>C (LARS2)	ENSP00000412893.1:p.Trp485Cys
ENST00000415258.5:c.1584G>C (LARS2)	ENSP00000408576.1:p.Trp528Cys
NM_015340.3:c.1584G>C (LARS2)	NP_056155.1:p.Trp528Cys
NR_048543.1:n.261-835C>G (LARS2-AS1)
XM_005265006.1:c.1584G>C (LARS2)	XP_005265063.1:p.Trp528Cys
XM_011533554.1:c.1584G>C (LARS2)	XP_011531856.1:p.Trp528Cys
XM_005265006.2:c.1584G>C (LARS2)	XP_005265063.1:p.Trp528Cys
XM_011533554.2:c.1584G>C (LARS2)	XP_011531856.1:p.Trp528Cys
XM_017006042.1:c.1584G>C (LARS2)	XP_016861531.1:p.Trp528Cys
NM_015340.4:c.1584G>C (LARS2) MANE Select	NP_056155.1:p.Trp528Cys
NM_001368263.1:c.1584G>C (LARS2)	NP_001355192.1:p.Trp528Cys