Canonical Allele Identifier: CA543040663

Gene: LARS2

Linked Data

• dbSNP Id: rs1434745125
• gnomAD v2: 3-45518009-CT-C
• gnomAD v4: 3-45476517-CT-C
• MyVariant Identifiers: chr3:g.45518010del (hg19) ; chr3:g.45476518del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476518del , CM000665.2:g.45476518del	GRCh38
NC_000003.11:g.45518010del , CM000665.1:g.45518010del	GRCh37
NC_000003.10:g.45493014del	NCBI36
NG_033907.1:g.92936del
NG_033907.2:g.92936del
NG_033907.3:g.92955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.909del	ENSP00000265537.4:p.Glu304LysfsTer24
ENST00000642274.1:c.909del	ENSP00000495707.1:p.Glu304LysfsTer24
ENST00000645846.2:c.909del MANE Select	ENSP00000495093.1:p.Glu304LysfsTer24
ENST00000650792.2:c.909del	ENSP00000498867.1:p.Glu304LysfsTer24
ENST00000651549.1:c.909del	ENSP00000499002.1:p.Glu304LysfsTer24
ENST00000652135.1:c.*777del	ENSP00000499104.1:n.*777del
ENST00000265537.7:c.909del	ENSP00000265537.3:p.Glu304LysfsTer24
ENST00000414984.5:c.780del	ENSP00000412893.1:p.Glu261LysfsTer24
ENST00000415258.5:c.909del	ENSP00000408576.1:p.Glu304LysfsTer24
NM_015340.3:c.909del	NP_056155.1:p.Glu304LysfsTer24
XM_005265006.1:c.909del	XP_005265063.1:p.Glu304LysfsTer24
XM_011533554.1:c.909del	XP_011531856.1:p.Glu304LysfsTer24
XM_005265006.2:c.909del	XP_005265063.1:p.Glu304LysfsTer24
XM_011533554.2:c.909del	XP_011531856.1:p.Glu304LysfsTer24
XM_017006042.1:c.909del	XP_016861531.1:p.Glu304LysfsTer24
NM_015340.4:c.909del MANE Select	NP_056155.1:p.Glu304LysfsTer24
NM_001368263.1:c.909del	NP_001355192.1:p.Glu304LysfsTer24