Canonical Allele Identifier: CA1361691413

Gene: LARS2

Linked Data

• dbSNP Id: rs1699615074

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476606_45476609dup , CM000665.2:g.45476606_45476609dup	GRCh38
NC_000003.11:g.45518098_45518101dup , CM000665.1:g.45518098_45518101dup	GRCh37
NC_000003.10:g.45493102_45493105dup	NCBI36
NG_033907.1:g.93024_93027dup
NG_033907.2:g.93024_93027dup
NG_033907.3:g.93043_93046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.997_1000dup	ENSP00000265537.4:p.Ala334AspfsTer?
ENST00000642274.1:c.997_1000dup	ENSP00000495707.1:p.Ala334AspfsTer?
ENST00000645846.2:c.997_1000dup MANE Select	ENSP00000495093.1:p.Ala334AspfsTer?
ENST00000650792.2:c.997_1000dup	ENSP00000498867.1:p.Ala334AspfsTer?
ENST00000651549.1:c.997_1000dup	ENSP00000499002.1:p.Ala334AspfsTer?
ENST00000652135.1:c.*865_*868dup	ENSP00000499104.1:n.*865_*868dup
ENST00000265537.7:c.997_1000dup	ENSP00000265537.3:p.Ala334AspfsTer?
ENST00000414984.5:c.868_871dup	ENSP00000412893.1:p.Ala291AspfsTer?
ENST00000415258.5:c.997_1000dup	ENSP00000408576.1:p.Ala334AspfsTer?
NM_015340.3:c.997_1000dup	NP_056155.1:p.Ala334AspfsTer?
XM_005265006.1:c.997_1000dup	XP_005265063.1:p.Ala334AspfsTer?
XM_011533554.1:c.997_1000dup	XP_011531856.1:p.Ala334AspfsTer?
XM_005265006.2:c.997_1000dup	XP_005265063.1:p.Ala334AspfsTer?
XM_011533554.2:c.997_1000dup	XP_011531856.1:p.Ala334AspfsTer?
XM_017006042.1:c.997_1000dup	XP_016861531.1:p.Ala334AspfsTer?
NM_015340.4:c.997_1000dup MANE Select	NP_056155.1:p.Ala334AspfsTer?
NM_001368263.1:c.997_1000dup	NP_001355192.1:p.Ala334AspfsTer?