Canonical Allele Identifier: CA343767569

Gene: DARS2

Linked Data

• dbSNP Id: rs1653897840
• gnomAD v3: 1-173857526-A-G
• gnomAD v4: 1-173857526-A-G
• MyVariant Identifiers: chr1:g.173826664A>G (hg19) ; chr1:g.173857526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857526A>G , CM000663.2:g.173857526A>G	GRCh38
NC_000001.10:g.173826664A>G , CM000663.1:g.173826664A>G	GRCh37
NC_000001.9:g.172093287A>G	NCBI36
NG_016138.1:g.37868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1338A>G	ENSP00000497663.1:n.*1338A>G
ENST00000647645.1:c.1696A>G	ENSP00000497450.1:p.Arg566Gly
ENST00000647730.1:c.*1449A>G	ENSP00000497781.1:n.*1449A>G
ENST00000647788.1:c.*903A>G	ENSP00000497769.1:n.*903A>G
ENST00000648271.1:c.*2225A>G	ENSP00000497795.1:n.*2225A>G
ENST00000648807.1:c.1606A>G	ENSP00000497472.1:p.Arg536Gly
ENST00000648960.1:c.1276A>G	ENSP00000497091.1:p.Arg426Gly
ENST00000649067.1:c.*762A>G	ENSP00000497052.1:n.*762A>G
ENST00000649689.2:c.1759A>G MANE Select	ENSP00000497569.1:p.Arg587Gly
ENST00000361951.4:c.1759A>G	ENSP00000355086.4:p.Arg587Gly
ENST00000471476.1:n.581A>G
NM_018122.4:c.1759A>G	NP_060592.2:p.Arg587Gly
XM_006711427.2:c.1606A>G	XP_006711490.1:p.Arg536Gly
NM_001365212.1:c.1606A>G	NP_001352141.1:p.Arg536Gly
NM_018122.5:c.1759A>G MANE Select	NP_060592.2:p.Arg587Gly