Canonical Allele Identifier: CA1250543

Gene: DARS2

Linked Data

• dbSNP Id: rs570479524
• ExAC: 1:173826800 G / A
• gnomAD v2: 1-173826800-G-A
• gnomAD v3: 1-173857662-G-A
• gnomAD v4: 1-173857662-G-A
• MyVariant Identifiers: chr1:g.173826800G>A (hg19) ; chr1:g.173857662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857662G>A , CM000663.2:g.173857662G>A	GRCh38
NC_000001.10:g.173826800G>A , CM000663.1:g.173826800G>A	GRCh37
NC_000001.9:g.172093423G>A	NCBI36
NG_016138.1:g.38004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1474G>A	ENSP00000497663.1:n.*1474G>A
ENST00000647645.1:c.1832G>A	ENSP00000497450.1:p.Arg611Gln
ENST00000647730.1:c.*1585G>A	ENSP00000497781.1:n.*1585G>A
ENST00000647788.1:c.*1039G>A	ENSP00000497769.1:n.*1039G>A
ENST00000648271.1:c.*2361G>A	ENSP00000497795.1:n.*2361G>A
ENST00000648807.1:c.1742G>A	ENSP00000497472.1:p.Arg581Gln
ENST00000648960.1:c.1412G>A	ENSP00000497091.1:p.Arg471Gln
ENST00000649067.1:c.*898G>A	ENSP00000497052.1:n.*898G>A
ENST00000649689.2:c.1895G>A MANE Select	ENSP00000497569.1:p.Arg632Gln
ENST00000361951.4:c.1895G>A	ENSP00000355086.4:p.Arg632Gln
ENST00000471476.1:n.717G>A
NM_018122.4:c.1895G>A	NP_060592.2:p.Arg632Gln
XM_006711427.2:c.1742G>A	XP_006711490.1:p.Arg581Gln
NM_001365212.1:c.1742G>A	NP_001352141.1:p.Arg581Gln
NM_018122.5:c.1895G>A MANE Select	NP_060592.2:p.Arg632Gln