Canonical Allele Identifier: CA343767740

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826747G>A (hg19) ; chr1:g.173857609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857609G>A , CM000663.2:g.173857609G>A	GRCh38
NC_000001.10:g.173826747G>A , CM000663.1:g.173826747G>A	GRCh37
NC_000001.9:g.172093370G>A	NCBI36
NG_016138.1:g.37951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1421G>A	ENSP00000497663.1:n.*1421G>A
ENST00000647645.1:c.1779G>A	ENSP00000497450.1:p.Met593Ile
ENST00000647730.1:c.*1532G>A	ENSP00000497781.1:n.*1532G>A
ENST00000647788.1:c.*986G>A	ENSP00000497769.1:n.*986G>A
ENST00000648271.1:c.*2308G>A	ENSP00000497795.1:n.*2308G>A
ENST00000648807.1:c.1689G>A	ENSP00000497472.1:p.Met563Ile
ENST00000648960.1:c.1359G>A	ENSP00000497091.1:p.Met453Ile
ENST00000649067.1:c.*845G>A	ENSP00000497052.1:n.*845G>A
ENST00000649689.2:c.1842G>A MANE Select	ENSP00000497569.1:p.Met614Ile
ENST00000361951.4:c.1842G>A	ENSP00000355086.4:p.Met614Ile
ENST00000471476.1:n.664G>A
NM_018122.4:c.1842G>A	NP_060592.2:p.Met614Ile
XM_006711427.2:c.1689G>A	XP_006711490.1:p.Met563Ile
NM_001365212.1:c.1689G>A	NP_001352141.1:p.Met563Ile
NM_018122.5:c.1842G>A MANE Select	NP_060592.2:p.Met614Ile