Canonical Allele Identifier: CA10608835

Gene: DARS2

Linked Data

• ClinVar Variation Id: 293830
• ClinVar RCV Id: RCV000320285
• dbSNP Id: rs886045591
• MyVariant Identifiers: chr1:g.173826734G>C (hg19) ; chr1:g.173857596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857596G>C , CM000663.2:g.173857596G>C	GRCh38
NC_000001.10:g.173826734G>C , CM000663.1:g.173826734G>C	GRCh37
NC_000001.9:g.172093357G>C	NCBI36
NG_016138.1:g.37938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1408G>C	ENSP00000497663.1:n.*1408G>C
ENST00000647645.1:c.1766G>C	ENSP00000497450.1:p.Gly589Ala
ENST00000647730.1:c.*1519G>C	ENSP00000497781.1:n.*1519G>C
ENST00000647788.1:c.*973G>C	ENSP00000497769.1:n.*973G>C
ENST00000648271.1:c.*2295G>C	ENSP00000497795.1:n.*2295G>C
ENST00000648807.1:c.1676G>C	ENSP00000497472.1:p.Gly559Ala
ENST00000648960.1:c.1346G>C	ENSP00000497091.1:p.Gly449Ala
ENST00000649067.1:c.*832G>C	ENSP00000497052.1:n.*832G>C
ENST00000649689.2:c.1829G>C MANE Select	ENSP00000497569.1:p.Gly610Ala
ENST00000361951.4:c.1829G>C	ENSP00000355086.4:p.Gly610Ala
ENST00000471476.1:n.651G>C
NM_018122.4:c.1829G>C	NP_060592.2:p.Gly610Ala
XM_006711427.2:c.1676G>C	XP_006711490.1:p.Gly559Ala
NM_001365212.1:c.1676G>C	NP_001352141.1:p.Gly559Ala
NM_018122.5:c.1829G>C MANE Select	NP_060592.2:p.Gly610Ala