Canonical Allele Identifier: CA2349441

Gene: LARS2

Linked Data

• ClinVar Variation Id: 1912954
• ClinVar RCV Id: RCV002593505
• dbSNP Id: rs748218030
• ExAC: 3:45517977 G / A
• gnomAD v2: 3-45517977-G-A
• gnomAD v3: 3-45476485-G-A
• gnomAD v4: 3-45476485-G-A
• MyVariant Identifiers: chr3:g.45517977G>A (hg19) ; chr3:g.45476485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476485G>A , CM000665.2:g.45476485G>A	GRCh38
NC_000003.11:g.45517977G>A , CM000665.1:g.45517977G>A	GRCh37
NC_000003.10:g.45492981G>A	NCBI36
NG_033907.1:g.92903G>A
NG_033907.2:g.92903G>A
NG_033907.3:g.92922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.876G>A	ENSP00000265537.4:p.Thr292=
ENST00000642274.1:c.876G>A	ENSP00000495707.1:p.Thr292=
ENST00000645846.2:c.876G>A MANE Select	ENSP00000495093.1:p.Thr292=
ENST00000650792.2:c.876G>A	ENSP00000498867.1:p.Thr292=
ENST00000651549.1:c.876G>A	ENSP00000499002.1:p.Thr292=
ENST00000652135.1:c.*744G>A	ENSP00000499104.1:n.*744G>A
ENST00000265537.7:c.876G>A	ENSP00000265537.3:p.Thr292=
ENST00000414984.5:c.747G>A	ENSP00000412893.1:p.Thr249=
ENST00000415258.5:c.876G>A	ENSP00000408576.1:p.Thr292=
NM_015340.3:c.876G>A	NP_056155.1:p.Thr292=
XM_005265006.1:c.876G>A	XP_005265063.1:p.Thr292=
XM_011533554.1:c.876G>A	XP_011531856.1:p.Thr292=
XM_005265006.2:c.876G>A	XP_005265063.1:p.Thr292=
XM_011533554.2:c.876G>A	XP_011531856.1:p.Thr292=
XM_017006042.1:c.876G>A	XP_016861531.1:p.Thr292=
NM_015340.4:c.876G>A MANE Select	NP_056155.1:p.Thr292=
NM_001368263.1:c.876G>A	NP_001355192.1:p.Thr292=