Canonical Allele Identifier: CA352423846

Gene: LARS2

Linked Data

• gnomAD v4: 3-45476571-T-C
• MyVariant Identifiers: chr3:g.45518063T>C (hg19) ; chr3:g.45476571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476571T>C , CM000665.2:g.45476571T>C	GRCh38
NC_000003.11:g.45518063T>C , CM000665.1:g.45518063T>C	GRCh37
NC_000003.10:g.45493067T>C	NCBI36
NG_033907.1:g.92989T>C
NG_033907.2:g.92989T>C
NG_033907.3:g.93008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.962T>C	ENSP00000265537.4:p.Leu321Pro
ENST00000642274.1:c.962T>C	ENSP00000495707.1:p.Leu321Pro
ENST00000645846.2:c.962T>C MANE Select	ENSP00000495093.1:p.Leu321Pro
ENST00000650792.2:c.962T>C	ENSP00000498867.1:p.Leu321Pro
ENST00000651549.1:c.962T>C	ENSP00000499002.1:p.Leu321Pro
ENST00000652135.1:c.*830T>C	ENSP00000499104.1:n.*830T>C
ENST00000265537.7:c.962T>C	ENSP00000265537.3:p.Leu321Pro
ENST00000414984.5:c.833T>C	ENSP00000412893.1:p.Leu278Pro
ENST00000415258.5:c.962T>C	ENSP00000408576.1:p.Leu321Pro
NM_015340.3:c.962T>C	NP_056155.1:p.Leu321Pro
XM_005265006.1:c.962T>C	XP_005265063.1:p.Leu321Pro
XM_011533554.1:c.962T>C	XP_011531856.1:p.Leu321Pro
XM_005265006.2:c.962T>C	XP_005265063.1:p.Leu321Pro
XM_011533554.2:c.962T>C	XP_011531856.1:p.Leu321Pro
XM_017006042.1:c.962T>C	XP_016861531.1:p.Leu321Pro
NM_015340.4:c.962T>C MANE Select	NP_056155.1:p.Leu321Pro
NM_001368263.1:c.962T>C	NP_001355192.1:p.Leu321Pro