Canonical Allele Identifier: CA352423798

Gene: LARS2

Linked Data

• MyVariant Identifiers: chr3:g.45518050A>T (hg19) ; chr3:g.45476558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476558A>T , CM000665.2:g.45476558A>T	GRCh38
NC_000003.11:g.45518050A>T , CM000665.1:g.45518050A>T	GRCh37
NC_000003.10:g.45493054A>T	NCBI36
NG_033907.1:g.92976A>T
NG_033907.2:g.92976A>T
NG_033907.3:g.92995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.949A>T	ENSP00000265537.4:p.Ser317Cys
ENST00000642274.1:c.949A>T	ENSP00000495707.1:p.Ser317Cys
ENST00000645846.2:c.949A>T MANE Select	ENSP00000495093.1:p.Ser317Cys
ENST00000650792.2:c.949A>T	ENSP00000498867.1:p.Ser317Cys
ENST00000651549.1:c.949A>T	ENSP00000499002.1:p.Ser317Cys
ENST00000652135.1:c.*817A>T	ENSP00000499104.1:n.*817A>T
ENST00000265537.7:c.949A>T	ENSP00000265537.3:p.Ser317Cys
ENST00000414984.5:c.820A>T	ENSP00000412893.1:p.Ser274Cys
ENST00000415258.5:c.949A>T	ENSP00000408576.1:p.Ser317Cys
NM_015340.3:c.949A>T	NP_056155.1:p.Ser317Cys
XM_005265006.1:c.949A>T	XP_005265063.1:p.Ser317Cys
XM_011533554.1:c.949A>T	XP_011531856.1:p.Ser317Cys
XM_005265006.2:c.949A>T	XP_005265063.1:p.Ser317Cys
XM_011533554.2:c.949A>T	XP_011531856.1:p.Ser317Cys
XM_017006042.1:c.949A>T	XP_016861531.1:p.Ser317Cys
NM_015340.4:c.949A>T MANE Select	NP_056155.1:p.Ser317Cys
NM_001368263.1:c.949A>T	NP_001355192.1:p.Ser317Cys