Canonical Allele Identifier: CA343767733

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826743T>G (hg19) ; chr1:g.173857605T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857605T>G , CM000663.2:g.173857605T>G	GRCh38
NC_000001.10:g.173826743T>G , CM000663.1:g.173826743T>G	GRCh37
NC_000001.9:g.172093366T>G	NCBI36
NG_016138.1:g.37947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1417T>G	ENSP00000497663.1:n.*1417T>G
ENST00000647645.1:c.1775T>G	ENSP00000497450.1:p.Leu592Arg
ENST00000647730.1:c.*1528T>G	ENSP00000497781.1:n.*1528T>G
ENST00000647788.1:c.*982T>G	ENSP00000497769.1:n.*982T>G
ENST00000648271.1:c.*2304T>G	ENSP00000497795.1:n.*2304T>G
ENST00000648807.1:c.1685T>G	ENSP00000497472.1:p.Leu562Arg
ENST00000648960.1:c.1355T>G	ENSP00000497091.1:p.Leu452Arg
ENST00000649067.1:c.*841T>G	ENSP00000497052.1:n.*841T>G
ENST00000649689.2:c.1838T>G MANE Select	ENSP00000497569.1:p.Leu613Arg
ENST00000361951.4:c.1838T>G	ENSP00000355086.4:p.Leu613Arg
ENST00000471476.1:n.660T>G
NM_018122.4:c.1838T>G	NP_060592.2:p.Leu613Arg
XM_006711427.2:c.1685T>G	XP_006711490.1:p.Leu562Arg
NM_001365212.1:c.1685T>G	NP_001352141.1:p.Leu562Arg
NM_018122.5:c.1838T>G MANE Select	NP_060592.2:p.Leu613Arg