Canonical Allele Identifier: CA1047458894

Gene: LARS2

Linked Data

• dbSNP Id: rs1699611322
• gnomAD v3: 3-45476497-GACTGCCTAT-G
• gnomAD v4: 3-45476497-GACTGCCTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476500_45476508del , CM000665.2:g.45476500_45476508del	GRCh38
NC_000003.11:g.45517992_45518000del , CM000665.1:g.45517992_45518000del	GRCh37
NC_000003.10:g.45492996_45493004del	NCBI36
NG_033907.1:g.92918_92926del
NG_033907.2:g.92918_92926del
NG_033907.3:g.92937_92945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.891_899del	ENSP00000265537.4:p.Ala298_Thr300del
ENST00000642274.1:c.891_899del	ENSP00000495707.1:p.Ala298_Thr300del
ENST00000645846.2:c.891_899del MANE Select	ENSP00000495093.1:p.Ala298_Thr300del
ENST00000650792.2:c.891_899del	ENSP00000498867.1:p.Ala298_Thr300del
ENST00000651549.1:c.891_899del	ENSP00000499002.1:p.Ala298_Thr300del
ENST00000652135.1:c.*759_*767del	ENSP00000499104.1:n.*759_*767del
ENST00000265537.7:c.891_899del	ENSP00000265537.3:p.Ala298_Thr300del
ENST00000414984.5:c.762_770del	ENSP00000412893.1:p.Ala255_Thr257del
ENST00000415258.5:c.891_899del	ENSP00000408576.1:p.Ala298_Thr300del
NM_015340.3:c.891_899del	NP_056155.1:p.Ala298_Thr300del
XM_005265006.1:c.891_899del	XP_005265063.1:p.Ala298_Thr300del
XM_011533554.1:c.891_899del	XP_011531856.1:p.Ala298_Thr300del
XM_005265006.2:c.891_899del	XP_005265063.1:p.Ala298_Thr300del
XM_011533554.2:c.891_899del	XP_011531856.1:p.Ala298_Thr300del
XM_017006042.1:c.891_899del	XP_016861531.1:p.Ala298_Thr300del
NM_015340.4:c.891_899del MANE Select	NP_056155.1:p.Ala298_Thr300del
NM_001368263.1:c.891_899del	NP_001355192.1:p.Ala298_Thr300del