Canonical Allele Identifier: CA421811898

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826684T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857546T>C , CM000663.2:g.173857546T>C	GRCh38
NC_000001.10:g.173826684T>C , CM000663.1:g.173826684T>C	GRCh37
NC_000001.9:g.172093307T>C	NCBI36
NG_016138.1:g.37888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1358T>C	ENSP00000497663.1:n.*1358T>C
ENST00000647645.1:c.1716T>C	ENSP00000497450.1:p.Thr572=
ENST00000647730.1:c.*1469T>C	ENSP00000497781.1:n.*1469T>C
ENST00000647788.1:c.*923T>C	ENSP00000497769.1:n.*923T>C
ENST00000648271.1:c.*2245T>C	ENSP00000497795.1:n.*2245T>C
ENST00000648807.1:c.1626T>C	ENSP00000497472.1:p.Thr542=
ENST00000648960.1:c.1296T>C	ENSP00000497091.1:p.Thr432=
ENST00000649067.1:c.*782T>C	ENSP00000497052.1:n.*782T>C
ENST00000649689.2:c.1779T>C MANE Select	ENSP00000497569.1:p.Thr593=
ENST00000361951.4:c.1779T>C	ENSP00000355086.4:p.Thr593=
ENST00000471476.1:n.601T>C
NM_018122.4:c.1779T>C	NP_060592.2:p.Thr593=
XM_006711427.2:c.1626T>C	XP_006711490.1:p.Thr542=
NM_001365212.1:c.1626T>C	NP_001352141.1:p.Thr542=
NM_018122.5:c.1779T>C MANE Select	NP_060592.2:p.Thr593=