Canonical Allele Identifier: CA352428995

Gene: LARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45518039G>C , CM000665.2:g.45518039G>C	GRCh38
NC_000003.11:g.45559531G>C , CM000665.1:g.45559531G>C	GRCh37
NC_000003.10:g.45534535G>C	NCBI36
NG_033907.1:g.134457G>C
NG_033907.2:g.134457G>C
NG_033907.3:g.134476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.*571G>C	ENSP00000265537.4:n.*571G>C
ENST00000642274.1:c.2181G>C	ENSP00000495707.1:p.Lys727Asn
ENST00000645846.2:c.2181G>C MANE Select	ENSP00000495093.1:p.Lys727Asn
ENST00000650792.2:c.2181G>C	ENSP00000498867.1:p.Lys727Asn
ENST00000651549.1:c.*471G>C	ENSP00000499002.1:n.*471G>C
ENST00000652135.1:c.*2049G>C	ENSP00000499104.1:n.*2049G>C
ENST00000265537.7:c.2181G>C	ENSP00000265537.3:p.Lys727Asn
ENST00000414984.5:c.2052G>C	ENSP00000412893.1:p.Lys684Asn
ENST00000415258.5:c.2181G>C	ENSP00000408576.1:p.Lys727Asn
ENST00000467936.5:n.460G>C
ENST00000485461.1:n.77G>C
NM_015340.3:c.2181G>C	NP_056155.1:p.Lys727Asn
XM_005265006.1:c.2181G>C	XP_005265063.1:p.Lys727Asn
XM_011533554.1:c.2181G>C	XP_011531856.1:p.Lys727Asn
XM_005265006.2:c.2181G>C	XP_005265063.1:p.Lys727Asn
XM_011533554.2:c.2181G>C	XP_011531856.1:p.Lys727Asn
XM_017006042.1:c.2181G>C	XP_016861531.1:p.Lys727Asn
NM_015340.4:c.2181G>C MANE Select	NP_056155.1:p.Lys727Asn
NM_001368263.1:c.2181G>C	NP_001355192.1:p.Lys727Asn