Canonical Allele Identifier: CA278778

Gene: LARS2

Linked Data

• ClinVar Variation Id: 203990
• ClinVar RCV Id: RCV000203256 ; RCV000203257
• dbSNP Id: rs864309642
• gnomAD v2: 3-45518000-C-T
• gnomAD v3: 3-45476508-C-T
• gnomAD v4: 3-45476508-C-T
• COSMIC: COSM4149919
• MyVariant Identifiers: chr3:g.45518000C>T (hg19) ; chr3:g.45476508C>T (hg38)
• PubMed: PMID:26657938

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476508C>T , CM000665.2:g.45476508C>T	GRCh38
NC_000003.11:g.45518000C>T , CM000665.1:g.45518000C>T	GRCh37
NC_000003.10:g.45493004C>T	NCBI36
NG_033907.1:g.92926C>T
NG_033907.2:g.92926C>T
NG_033907.3:g.92945C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265537.8:c.899C>T	ENSP00000265537.4:p.Thr300Met
ENST00000642274.1:c.899C>T	ENSP00000495707.1:p.Thr300Met
ENST00000645846.2:c.899C>T MANE Select	ENSP00000495093.1:p.Thr300Met
ENST00000650792.2:c.899C>T	ENSP00000498867.1:p.Thr300Met
ENST00000651549.1:c.899C>T	ENSP00000499002.1:p.Thr300Met
ENST00000652135.1:c.*767C>T	ENSP00000499104.1:n.*767C>T
ENST00000265537.7:c.899C>T	ENSP00000265537.3:p.Thr300Met
ENST00000414984.5:c.770C>T	ENSP00000412893.1:p.Thr257Met
ENST00000415258.5:c.899C>T	ENSP00000408576.1:p.Thr300Met
NM_015340.3:c.899C>T	NP_056155.1:p.Thr300Met
XM_005265006.1:c.899C>T	XP_005265063.1:p.Thr300Met
XM_011533554.1:c.899C>T	XP_011531856.1:p.Thr300Met
XM_005265006.2:c.899C>T	XP_005265063.1:p.Thr300Met
XM_011533554.2:c.899C>T	XP_011531856.1:p.Thr300Met
XM_017006042.1:c.899C>T	XP_016861531.1:p.Thr300Met
NM_015340.4:c.899C>T MANE Select	NP_056155.1:p.Thr300Met
NM_001368263.1:c.899C>T	NP_001355192.1:p.Thr300Met