Canonical Allele Identifier: CA343767562

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826661G>A (hg19) ; chr1:g.173857523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857523G>A , CM000663.2:g.173857523G>A	GRCh38
NC_000001.10:g.173826661G>A , CM000663.1:g.173826661G>A	GRCh37
NC_000001.9:g.172093284G>A	NCBI36
NG_016138.1:g.37865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1335G>A	ENSP00000497663.1:n.*1335G>A
ENST00000647645.1:c.1693G>A	ENSP00000497450.1:p.Asp565Asn
ENST00000647730.1:c.*1446G>A	ENSP00000497781.1:n.*1446G>A
ENST00000647788.1:c.*900G>A	ENSP00000497769.1:n.*900G>A
ENST00000648271.1:c.*2222G>A	ENSP00000497795.1:n.*2222G>A
ENST00000648807.1:c.1603G>A	ENSP00000497472.1:p.Asp535Asn
ENST00000648960.1:c.1273G>A	ENSP00000497091.1:p.Asp425Asn
ENST00000649067.1:c.*759G>A	ENSP00000497052.1:n.*759G>A
ENST00000649689.2:c.1756G>A MANE Select	ENSP00000497569.1:p.Asp586Asn
ENST00000361951.4:c.1756G>A	ENSP00000355086.4:p.Asp586Asn
ENST00000471476.1:n.578G>A
NM_018122.4:c.1756G>A	NP_060592.2:p.Asp586Asn
XM_006711427.2:c.1603G>A	XP_006711490.1:p.Asp535Asn
NM_001365212.1:c.1603G>A	NP_001352141.1:p.Asp535Asn
NM_018122.5:c.1756G>A MANE Select	NP_060592.2:p.Asp586Asn