Canonical Allele Identifier: CA421811956

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826723G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857585G>A , CM000663.2:g.173857585G>A	GRCh38
NC_000001.10:g.173826723G>A , CM000663.1:g.173826723G>A	GRCh37
NC_000001.9:g.172093346G>A	NCBI36
NG_016138.1:g.37927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1397G>A	ENSP00000497663.1:n.*1397G>A
ENST00000647645.1:c.1755G>A	ENSP00000497450.1:p.Lys585=
ENST00000647730.1:c.*1508G>A	ENSP00000497781.1:n.*1508G>A
ENST00000647788.1:c.*962G>A	ENSP00000497769.1:n.*962G>A
ENST00000648271.1:c.*2284G>A	ENSP00000497795.1:n.*2284G>A
ENST00000648807.1:c.1665G>A	ENSP00000497472.1:p.Lys555=
ENST00000648960.1:c.1335G>A	ENSP00000497091.1:p.Lys445=
ENST00000649067.1:c.*821G>A	ENSP00000497052.1:n.*821G>A
ENST00000649689.2:c.1818G>A MANE Select	ENSP00000497569.1:p.Lys606=
ENST00000361951.4:c.1818G>A	ENSP00000355086.4:p.Lys606=
ENST00000471476.1:n.640G>A
NM_018122.4:c.1818G>A	NP_060592.2:p.Lys606=
XM_006711427.2:c.1665G>A	XP_006711490.1:p.Lys555=
NM_001365212.1:c.1665G>A	NP_001352141.1:p.Lys555=
NM_018122.5:c.1818G>A MANE Select	NP_060592.2:p.Lys606=