Canonical Allele Identifier: CA421812016

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826777G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857639G>A , CM000663.2:g.173857639G>A	GRCh38
NC_000001.10:g.173826777G>A , CM000663.1:g.173826777G>A	GRCh37
NC_000001.9:g.172093400G>A	NCBI36
NG_016138.1:g.37981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1451G>A	ENSP00000497663.1:n.*1451G>A
ENST00000647645.1:c.1809G>A	ENSP00000497450.1:p.Glu603=
ENST00000647730.1:c.*1562G>A	ENSP00000497781.1:n.*1562G>A
ENST00000647788.1:c.*1016G>A	ENSP00000497769.1:n.*1016G>A
ENST00000648271.1:c.*2338G>A	ENSP00000497795.1:n.*2338G>A
ENST00000648807.1:c.1719G>A	ENSP00000497472.1:p.Glu573=
ENST00000648960.1:c.1389G>A	ENSP00000497091.1:p.Glu463=
ENST00000649067.1:c.*875G>A	ENSP00000497052.1:n.*875G>A
ENST00000649689.2:c.1872G>A MANE Select	ENSP00000497569.1:p.Glu624=
ENST00000361951.4:c.1872G>A	ENSP00000355086.4:p.Glu624=
ENST00000471476.1:n.694G>A
NM_018122.4:c.1872G>A	NP_060592.2:p.Glu624=
XM_006711427.2:c.1719G>A	XP_006711490.1:p.Glu573=
NM_001365212.1:c.1719G>A	NP_001352141.1:p.Glu573=
NM_018122.5:c.1872G>A MANE Select	NP_060592.2:p.Glu624=