Canonical Allele Identifier: CA1250524

Gene: DARS2

Linked Data

• dbSNP Id: rs750651579
• ExAC: 1:173826688 T / A
• gnomAD v2: 1-173826688-T-A
• gnomAD v4: 1-173857550-T-A
• MyVariant Identifiers: chr1:g.173826688T>A (hg19) ; chr1:g.173857550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857550T>A , CM000663.2:g.173857550T>A	GRCh38
NC_000001.10:g.173826688T>A , CM000663.1:g.173826688T>A	GRCh37
NC_000001.9:g.172093311T>A	NCBI36
NG_016138.1:g.37892T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1362T>A	ENSP00000497663.1:n.*1362T>A
ENST00000647645.1:c.1720T>A	ENSP00000497450.1:p.Ser574Thr
ENST00000647730.1:c.*1473T>A	ENSP00000497781.1:n.*1473T>A
ENST00000647788.1:c.*927T>A	ENSP00000497769.1:n.*927T>A
ENST00000648271.1:c.*2249T>A	ENSP00000497795.1:n.*2249T>A
ENST00000648807.1:c.1630T>A	ENSP00000497472.1:p.Ser544Thr
ENST00000648960.1:c.1300T>A	ENSP00000497091.1:p.Ser434Thr
ENST00000649067.1:c.*786T>A	ENSP00000497052.1:n.*786T>A
ENST00000649689.2:c.1783T>A MANE Select	ENSP00000497569.1:p.Ser595Thr
ENST00000361951.4:c.1783T>A	ENSP00000355086.4:p.Ser595Thr
ENST00000471476.1:n.605T>A
NM_018122.4:c.1783T>A	NP_060592.2:p.Ser595Thr
XM_006711427.2:c.1630T>A	XP_006711490.1:p.Ser544Thr
NM_001365212.1:c.1630T>A	NP_001352141.1:p.Ser544Thr
NM_018122.5:c.1783T>A MANE Select	NP_060592.2:p.Ser595Thr