Canonical Allele Identifier: CA343767685

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857583-A-G
• MyVariant Identifiers: chr1:g.173826721A>G (hg19) ; chr1:g.173857583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857583A>G , CM000663.2:g.173857583A>G	GRCh38
NC_000001.10:g.173826721A>G , CM000663.1:g.173826721A>G	GRCh37
NC_000001.9:g.172093344A>G	NCBI36
NG_016138.1:g.37925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1395A>G	ENSP00000497663.1:n.*1395A>G
ENST00000647645.1:c.1753A>G	ENSP00000497450.1:p.Lys585Glu
ENST00000647730.1:c.*1506A>G	ENSP00000497781.1:n.*1506A>G
ENST00000647788.1:c.*960A>G	ENSP00000497769.1:n.*960A>G
ENST00000648271.1:c.*2282A>G	ENSP00000497795.1:n.*2282A>G
ENST00000648807.1:c.1663A>G	ENSP00000497472.1:p.Lys555Glu
ENST00000648960.1:c.1333A>G	ENSP00000497091.1:p.Lys445Glu
ENST00000649067.1:c.*819A>G	ENSP00000497052.1:n.*819A>G
ENST00000649689.2:c.1816A>G MANE Select	ENSP00000497569.1:p.Lys606Glu
ENST00000361951.4:c.1816A>G	ENSP00000355086.4:p.Lys606Glu
ENST00000471476.1:n.638A>G
NM_018122.4:c.1816A>G	NP_060592.2:p.Lys606Glu
XM_006711427.2:c.1663A>G	XP_006711490.1:p.Lys555Glu
NM_001365212.1:c.1663A>G	NP_001352141.1:p.Lys555Glu
NM_018122.5:c.1816A>G MANE Select	NP_060592.2:p.Lys606Glu