Canonical Allele Identifier: CA907481592

Gene: LARS2

Linked Data

• dbSNP Id: rs1286340292
• gnomAD v3: 3-45476729-GGTT-G
• gnomAD v4: 3-45476729-GGTT-G
• MyVariant Identifiers: chr3:g.45518222_45518224del (hg19) ; chr3:g.45476730_45476732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476733_45476735del , CM000665.2:g.45476733_45476735del	GRCh38
NC_000003.11:g.45518225_45518227del , CM000665.1:g.45518225_45518227del	GRCh37
NC_000003.10:g.45493229_45493231del	NCBI36
NG_033907.1:g.93151_93153del
NG_033907.2:g.93151_93153del
NG_033907.3:g.93170_93172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.1018+106_1018+108del	ENSP00000265537.4:n.1018+106_1018+108del
ENST00000642274.1:c.1018+106_1018+108del	ENSP00000495707.1:n.1018+106_1018+108del
ENST00000645846.2:c.1018+106_1018+108del MANE Select	ENSP00000495093.1:n.1018+106_1018+108del
ENST00000650792.2:c.1018+106_1018+108del	ENSP00000498867.1:n.1018+106_1018+108del
ENST00000651549.1:c.1018+106_1018+108del	ENSP00000499002.1:n.1018+106_1018+108del
ENST00000652135.1:c.*886+106_*886+108del	ENSP00000499104.1:n.*886+106_*886+108del
ENST00000265537.7:c.1018+106_1018+108del	ENSP00000265537.3:n.1018+106_1018+108del
ENST00000414984.5:c.889+106_889+108del	ENSP00000412893.1:n.889+106_889+108del
ENST00000415258.5:c.1018+106_1018+108del	ENSP00000408576.1:n.1018+106_1018+108del
NM_015340.3:c.1018+106_1018+108del	NP_056155.1:n.1018+106_1018+108del
XM_005265006.1:c.1018+106_1018+108del	XP_005265063.1:n.1018+106_1018+108del
XM_011533554.1:c.1018+106_1018+108del	XP_011531856.1:n.1018+106_1018+108del
XM_005265006.2:c.1018+106_1018+108del	XP_005265063.1:n.1018+106_1018+108del
XM_011533554.2:c.1018+106_1018+108del	XP_011531856.1:n.1018+106_1018+108del
XM_017006042.1:c.1018+106_1018+108del	XP_016861531.1:n.1018+106_1018+108del
NM_015340.4:c.1018+106_1018+108del MANE Select	NP_056155.1:n.1018+106_1018+108del
NM_001368263.1:c.1018+106_1018+108del	NP_001355192.1:n.1018+106_1018+108del