Canonical Allele Identifier: CA343767608

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826683C>A (hg19) ; chr1:g.173857545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857545C>A , CM000663.2:g.173857545C>A	GRCh38
NC_000001.10:g.173826683C>A , CM000663.1:g.173826683C>A	GRCh37
NC_000001.9:g.172093306C>A	NCBI36
NG_016138.1:g.37887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1357C>A	ENSP00000497663.1:n.*1357C>A
ENST00000647645.1:c.1715C>A	ENSP00000497450.1:p.Thr572Asn
ENST00000647730.1:c.*1468C>A	ENSP00000497781.1:n.*1468C>A
ENST00000647788.1:c.*922C>A	ENSP00000497769.1:n.*922C>A
ENST00000648271.1:c.*2244C>A	ENSP00000497795.1:n.*2244C>A
ENST00000648807.1:c.1625C>A	ENSP00000497472.1:p.Thr542Asn
ENST00000648960.1:c.1295C>A	ENSP00000497091.1:p.Thr432Asn
ENST00000649067.1:c.*781C>A	ENSP00000497052.1:n.*781C>A
ENST00000649689.2:c.1778C>A MANE Select	ENSP00000497569.1:p.Thr593Asn
ENST00000361951.4:c.1778C>A	ENSP00000355086.4:p.Thr593Asn
ENST00000471476.1:n.600C>A
NM_018122.4:c.1778C>A	NP_060592.2:p.Thr593Asn
XM_006711427.2:c.1625C>A	XP_006711490.1:p.Thr542Asn
NM_001365212.1:c.1625C>A	NP_001352141.1:p.Thr542Asn
NM_018122.5:c.1778C>A MANE Select	NP_060592.2:p.Thr593Asn