Canonical Allele Identifier: CA352423696

Gene: LARS2

Linked Data

• gnomAD v4: 3-45476528-T-C
• MyVariant Identifiers: chr3:g.45518020T>C (hg19) ; chr3:g.45476528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476528T>C , CM000665.2:g.45476528T>C	GRCh38
NC_000003.11:g.45518020T>C , CM000665.1:g.45518020T>C	GRCh37
NC_000003.10:g.45493024T>C	NCBI36
NG_033907.1:g.92946T>C
NG_033907.2:g.92946T>C
NG_033907.3:g.92965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.919T>C	ENSP00000265537.4:p.Tyr307His
ENST00000642274.1:c.919T>C	ENSP00000495707.1:p.Tyr307His
ENST00000645846.2:c.919T>C MANE Select	ENSP00000495093.1:p.Tyr307His
ENST00000650792.2:c.919T>C	ENSP00000498867.1:p.Tyr307His
ENST00000651549.1:c.919T>C	ENSP00000499002.1:p.Tyr307His
ENST00000652135.1:c.*787T>C	ENSP00000499104.1:n.*787T>C
ENST00000265537.7:c.919T>C	ENSP00000265537.3:p.Tyr307His
ENST00000414984.5:c.790T>C	ENSP00000412893.1:p.Tyr264His
ENST00000415258.5:c.919T>C	ENSP00000408576.1:p.Tyr307His
NM_015340.3:c.919T>C	NP_056155.1:p.Tyr307His
XM_005265006.1:c.919T>C	XP_005265063.1:p.Tyr307His
XM_011533554.1:c.919T>C	XP_011531856.1:p.Tyr307His
XM_005265006.2:c.919T>C	XP_005265063.1:p.Tyr307His
XM_011533554.2:c.919T>C	XP_011531856.1:p.Tyr307His
XM_017006042.1:c.919T>C	XP_016861531.1:p.Tyr307His
NM_015340.4:c.919T>C MANE Select	NP_056155.1:p.Tyr307His
NM_001368263.1:c.919T>C	NP_001355192.1:p.Tyr307His