Canonical Allele Identifier: CA343767763

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826757C>G (hg19) ; chr1:g.173857619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857619C>G , CM000663.2:g.173857619C>G	GRCh38
NC_000001.10:g.173826757C>G , CM000663.1:g.173826757C>G	GRCh37
NC_000001.9:g.172093380C>G	NCBI36
NG_016138.1:g.37961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1431C>G	ENSP00000497663.1:n.*1431C>G
ENST00000647645.1:c.1789C>G	ENSP00000497450.1:p.Pro597Ala
ENST00000647730.1:c.*1542C>G	ENSP00000497781.1:n.*1542C>G
ENST00000647788.1:c.*996C>G	ENSP00000497769.1:n.*996C>G
ENST00000648271.1:c.*2318C>G	ENSP00000497795.1:n.*2318C>G
ENST00000648807.1:c.1699C>G	ENSP00000497472.1:p.Pro567Ala
ENST00000648960.1:c.1369C>G	ENSP00000497091.1:p.Pro457Ala
ENST00000649067.1:c.*855C>G	ENSP00000497052.1:n.*855C>G
ENST00000649689.2:c.1852C>G MANE Select	ENSP00000497569.1:p.Pro618Ala
ENST00000361951.4:c.1852C>G	ENSP00000355086.4:p.Pro618Ala
ENST00000471476.1:n.674C>G
NM_018122.4:c.1852C>G	NP_060592.2:p.Pro618Ala
XM_006711427.2:c.1699C>G	XP_006711490.1:p.Pro567Ala
NM_001365212.1:c.1699C>G	NP_001352141.1:p.Pro567Ala
NM_018122.5:c.1852C>G MANE Select	NP_060592.2:p.Pro618Ala