Canonical Allele Identifier: CA2349431

Gene: LARS2

Linked Data

• dbSNP Id: rs757576707
• ExAC: 3:45517928 GAA / G
• gnomAD v2: 3-45517928-GAA-G
• gnomAD v3: 3-45476436-GAA-G
• gnomAD v4: 3-45476436-GAA-G
• MyVariant Identifiers: chr3:g.45517929_45517930del (hg19) ; chr3:g.45476437_45476438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476438_45476439del , CM000665.2:g.45476438_45476439del	GRCh38
NC_000003.11:g.45517930_45517931del , CM000665.1:g.45517930_45517931del	GRCh37
NC_000003.10:g.45492934_45492935del	NCBI36
NG_033907.1:g.92856_92857del
NG_033907.2:g.92856_92857del
NG_033907.3:g.92875_92876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.859-30_859-29del	ENSP00000265537.4:n.859-30_859-29del
ENST00000642274.1:c.859-30_859-29del	ENSP00000495707.1:n.859-30_859-29del
ENST00000645846.2:c.859-30_859-29del MANE Select	ENSP00000495093.1:n.859-30_859-29del
ENST00000650792.2:c.859-30_859-29del	ENSP00000498867.1:n.859-30_859-29del
ENST00000651549.1:c.859-30_859-29del	ENSP00000499002.1:n.859-30_859-29del
ENST00000652135.1:c.*727-30_*727-29del	ENSP00000499104.1:n.*727-30_*727-29del
ENST00000265537.7:c.859-30_859-29del	ENSP00000265537.3:n.859-30_859-29del
ENST00000414984.5:c.730-30_730-29del	ENSP00000412893.1:n.730-30_730-29del
ENST00000415258.5:c.859-30_859-29del	ENSP00000408576.1:n.859-30_859-29del
NM_015340.3:c.859-30_859-29del	NP_056155.1:n.859-30_859-29del
XM_005265006.1:c.859-30_859-29del	XP_005265063.1:n.859-30_859-29del
XM_011533554.1:c.859-30_859-29del	XP_011531856.1:n.859-30_859-29del
XM_005265006.2:c.859-30_859-29del	XP_005265063.1:n.859-30_859-29del
XM_011533554.2:c.859-30_859-29del	XP_011531856.1:n.859-30_859-29del
XM_017006042.1:c.859-30_859-29del	XP_016861531.1:n.859-30_859-29del
NM_015340.4:c.859-30_859-29del MANE Select	NP_056155.1:n.859-30_859-29del
NM_001368263.1:c.859-30_859-29del	NP_001355192.1:n.859-30_859-29del