Canonical Allele Identifier: CA343767559

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826659T>G (hg19) ; chr1:g.173857521T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857521T>G , CM000663.2:g.173857521T>G	GRCh38
NC_000001.10:g.173826659T>G , CM000663.1:g.173826659T>G	GRCh37
NC_000001.9:g.172093282T>G	NCBI36
NG_016138.1:g.37863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1333T>G	ENSP00000497663.1:n.*1333T>G
ENST00000647645.1:c.1691T>G	ENSP00000497450.1:p.Leu564Ter
ENST00000647730.1:c.*1444T>G	ENSP00000497781.1:n.*1444T>G
ENST00000647788.1:c.*898T>G	ENSP00000497769.1:n.*898T>G
ENST00000648271.1:c.*2220T>G	ENSP00000497795.1:n.*2220T>G
ENST00000648807.1:c.1601T>G	ENSP00000497472.1:p.Leu534Ter
ENST00000648960.1:c.1271T>G	ENSP00000497091.1:p.Leu424Ter
ENST00000649067.1:c.*757T>G	ENSP00000497052.1:n.*757T>G
ENST00000649689.2:c.1754T>G MANE Select	ENSP00000497569.1:p.Leu585Ter
ENST00000361951.4:c.1754T>G	ENSP00000355086.4:p.Leu585Ter
ENST00000471476.1:n.576T>G
NM_018122.4:c.1754T>G	NP_060592.2:p.Leu585Ter
XM_006711427.2:c.1601T>G	XP_006711490.1:p.Leu534Ter
NM_001365212.1:c.1601T>G	NP_001352141.1:p.Leu534Ter
NM_018122.5:c.1754T>G MANE Select	NP_060592.2:p.Leu585Ter