Canonical Allele Identifier: CA352423946

Gene: LARS2

Linked Data

• MyVariant Identifiers: chr3:g.45518090C>T (hg19) ; chr3:g.45476598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476598C>T , CM000665.2:g.45476598C>T	GRCh38
NC_000003.11:g.45518090C>T , CM000665.1:g.45518090C>T	GRCh37
NC_000003.10:g.45493094C>T	NCBI36
NG_033907.1:g.93016C>T
NG_033907.2:g.93016C>T
NG_033907.3:g.93035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.989C>T	ENSP00000265537.4:p.Ala330Val
ENST00000642274.1:c.989C>T	ENSP00000495707.1:p.Ala330Val
ENST00000645846.2:c.989C>T MANE Select	ENSP00000495093.1:p.Ala330Val
ENST00000650792.2:c.989C>T	ENSP00000498867.1:p.Ala330Val
ENST00000651549.1:c.989C>T	ENSP00000499002.1:p.Ala330Val
ENST00000652135.1:c.*857C>T	ENSP00000499104.1:n.*857C>T
ENST00000265537.7:c.989C>T	ENSP00000265537.3:p.Ala330Val
ENST00000414984.5:c.860C>T	ENSP00000412893.1:p.Ala287Val
ENST00000415258.5:c.989C>T	ENSP00000408576.1:p.Ala330Val
NM_015340.3:c.989C>T	NP_056155.1:p.Ala330Val
XM_005265006.1:c.989C>T	XP_005265063.1:p.Ala330Val
XM_011533554.1:c.989C>T	XP_011531856.1:p.Ala330Val
XM_005265006.2:c.989C>T	XP_005265063.1:p.Ala330Val
XM_011533554.2:c.989C>T	XP_011531856.1:p.Ala330Val
XM_017006042.1:c.989C>T	XP_016861531.1:p.Ala330Val
NM_015340.4:c.989C>T MANE Select	NP_056155.1:p.Ala330Val
NM_001368263.1:c.989C>T	NP_001355192.1:p.Ala330Val