Canonical Allele Identifier: CA343754835

Gene: DARS2

Linked Data

• ClinVar Variation Id: 522973
• ClinVar RCV Id: RCV000626171
• dbSNP Id: rs1553200766
• MyVariant Identifiers: chr1:g.173794387T>A (hg19) ; chr1:g.173825249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173825249T>A , CM000663.2:g.173825249T>A	GRCh38
NC_000001.10:g.173794387T>A , CM000663.1:g.173794387T>A	GRCh37
NC_000001.9:g.172061010T>A	NCBI36
NG_016138.1:g.5591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.20T>A	ENSP00000497663.1:p.Leu7Ter
ENST00000647645.1:c.20T>A	ENSP00000497450.1:p.Leu7Ter
ENST00000647730.1:c.20T>A	ENSP00000497781.1:p.Leu7Ter
ENST00000647788.1:c.20T>A	ENSP00000497769.1:p.Leu7Ter
ENST00000648055.1:n.407T>A
ENST00000648271.1:c.20T>A	ENSP00000497795.1:p.Leu7Ter
ENST00000648458.1:c.20T>A	ENSP00000497874.1:p.Leu7Ter
ENST00000648807.1:c.20T>A	ENSP00000497472.1:p.Leu7Ter
ENST00000648960.1:c.20T>A	ENSP00000497091.1:p.Leu7Ter
ENST00000649067.1:c.20T>A	ENSP00000497052.1:p.Leu7Ter
ENST00000649689.2:c.20T>A MANE Select	ENSP00000497569.1:p.Leu7Ter
ENST00000650297.1:n.403T>A
ENST00000361951.4:c.20T>A	ENSP00000355086.4:p.Leu7Ter
NM_018122.4:c.20T>A	NP_060592.2:p.Leu7Ter
XM_006711427.2:c.20T>A	XP_006711490.1:p.Leu7Ter
XM_011509711.1:c.20T>A	XP_011508013.1:p.Leu7Ter
NM_001365212.1:c.20T>A	NP_001352141.1:p.Leu7Ter
NM_001365213.1:c.20T>A	NP_001352142.1:p.Leu7Ter
NM_018122.5:c.20T>A MANE Select	NP_060592.2:p.Leu7Ter
NM_001365213.2:c.20T>A	NP_001352142.1:p.Leu7Ter