Canonical Allele Identifier: CA236183
Gene: LARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191173
ClinVar RCV Id: RCV000171359 RCV000723297 RCV000857233 RCV001727613
dbSNP Id: rs786205560
MyVariant Identifiers: chr3:g.45461162A>C (hg19) chr3:g.45419670A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45419670A>C , CM000665.2:g.45419670A>C GRCh38
NC_000003.11:g.45461162A>C , CM000665.1:g.45461162A>C GRCh37
NC_000003.10:g.45436166A>C NCBI36
NG_033907.1:g.36088A>C
NG_033907.2:g.36088A>C
NG_033907.3:g.36107A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265537.8:c.457A>C ENSP00000265537.4:p.Asn153His
ENST00000431023.6:n.583A>C
ENST00000642274.1:c.457A>C ENSP00000495707.1:p.Asn153His
ENST00000645846.2:c.457A>C MANE Select ENSP00000495093.1:p.Asn153His
ENST00000650792.2:c.457A>C ENSP00000498867.1:p.Asn153His
ENST00000651549.1:c.457A>C ENSP00000499002.1:p.Asn153His
ENST00000652135.1:c.*325A>C ENSP00000499104.1:n.*325A>C
ENST00000265537.7:c.457A>C ENSP00000265537.3:p.Asn153His
ENST00000414984.5:c.328A>C ENSP00000412893.1:p.Asn110His
ENST00000415258.5:c.457A>C ENSP00000408576.1:p.Asn153His
ENST00000431023.5:c.328A>C ENSP00000406611.1:p.Asn110His
NM_015340.3:c.457A>C NP_056155.1:p.Asn153His
XM_005265006.1:c.457A>C XP_005265063.1:p.Asn153His
XM_011533554.1:c.457A>C XP_011531856.1:p.Asn153His
XM_005265006.2:c.457A>C XP_005265063.1:p.Asn153His
XM_011533554.2:c.457A>C XP_011531856.1:p.Asn153His
XM_017006042.1:c.457A>C XP_016861531.1:p.Asn153His
NM_015340.4:c.457A>C MANE Select NP_056155.1:p.Asn153His
NM_001368263.1:c.457A>C NP_001355192.1:p.Asn153His
Search 100 bp 5'
Search 100 bp 3'