Canonical Allele Identifier: CA343767712

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826733G>C (hg19) ; chr1:g.173857595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857595G>C , CM000663.2:g.173857595G>C	GRCh38
NC_000001.10:g.173826733G>C , CM000663.1:g.173826733G>C	GRCh37
NC_000001.9:g.172093356G>C	NCBI36
NG_016138.1:g.37937G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1407G>C	ENSP00000497663.1:n.*1407G>C
ENST00000647645.1:c.1765G>C	ENSP00000497450.1:p.Gly589Arg
ENST00000647730.1:c.*1518G>C	ENSP00000497781.1:n.*1518G>C
ENST00000647788.1:c.*972G>C	ENSP00000497769.1:n.*972G>C
ENST00000648271.1:c.*2294G>C	ENSP00000497795.1:n.*2294G>C
ENST00000648807.1:c.1675G>C	ENSP00000497472.1:p.Gly559Arg
ENST00000648960.1:c.1345G>C	ENSP00000497091.1:p.Gly449Arg
ENST00000649067.1:c.*831G>C	ENSP00000497052.1:n.*831G>C
ENST00000649689.2:c.1828G>C MANE Select	ENSP00000497569.1:p.Gly610Arg
ENST00000361951.4:c.1828G>C	ENSP00000355086.4:p.Gly610Arg
ENST00000471476.1:n.650G>C
NM_018122.4:c.1828G>C	NP_060592.2:p.Gly610Arg
XM_006711427.2:c.1675G>C	XP_006711490.1:p.Gly559Arg
NM_001365212.1:c.1675G>C	NP_001352141.1:p.Gly559Arg
NM_018122.5:c.1828G>C MANE Select	NP_060592.2:p.Gly610Arg