Canonical Allele Identifier: CA2349452

Gene: LARS2

Linked Data

• dbSNP Id: rs764041251
• ExAC: 3:45518019 T / G
• gnomAD v2: 3-45518019-T-G
• MyVariant Identifiers: chr3:g.45518019T>G (hg19) ; chr3:g.45476527T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476527T>G , CM000665.2:g.45476527T>G	GRCh38
NC_000003.11:g.45518019T>G , CM000665.1:g.45518019T>G	GRCh37
NC_000003.10:g.45493023T>G	NCBI36
NG_033907.1:g.92945T>G
NG_033907.2:g.92945T>G
NG_033907.3:g.92964T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.918T>G	ENSP00000265537.4:p.Ile306Met
ENST00000642274.1:c.918T>G	ENSP00000495707.1:p.Ile306Met
ENST00000645846.2:c.918T>G MANE Select	ENSP00000495093.1:p.Ile306Met
ENST00000650792.2:c.918T>G	ENSP00000498867.1:p.Ile306Met
ENST00000651549.1:c.918T>G	ENSP00000499002.1:p.Ile306Met
ENST00000652135.1:c.*786T>G	ENSP00000499104.1:n.*786T>G
ENST00000265537.7:c.918T>G	ENSP00000265537.3:p.Ile306Met
ENST00000414984.5:c.789T>G	ENSP00000412893.1:p.Ile263Met
ENST00000415258.5:c.918T>G	ENSP00000408576.1:p.Ile306Met
NM_015340.3:c.918T>G	NP_056155.1:p.Ile306Met
XM_005265006.1:c.918T>G	XP_005265063.1:p.Ile306Met
XM_011533554.1:c.918T>G	XP_011531856.1:p.Ile306Met
XM_005265006.2:c.918T>G	XP_005265063.1:p.Ile306Met
XM_011533554.2:c.918T>G	XP_011531856.1:p.Ile306Met
XM_017006042.1:c.918T>G	XP_016861531.1:p.Ile306Met
NM_015340.4:c.918T>G MANE Select	NP_056155.1:p.Ile306Met
NM_001368263.1:c.918T>G	NP_001355192.1:p.Ile306Met