Canonical Allele Identifier: CA658795565

Gene: DARS2

Linked Data

• ClinVar Variation Id: 510081
• ClinVar RCV Id: RCV000605642
• dbSNP Id: rs1553201265

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173828313delinsCC , CM000663.2:g.173828313delinsCC	GRCh38
NC_000001.10:g.173797451delinsCC , CM000663.1:g.173797451delinsCC	GRCh37
NC_000001.9:g.172064074delinsCC	NCBI36
NG_016138.1:g.8655delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.227+1527delinsCC	ENSP00000497663.1:n.227+1527delinsCC
ENST00000647645.1:c.228-20delinsCC	ENSP00000497450.1:n.228-20delinsCC
ENST00000647730.1:c.227+1527delinsCC	ENSP00000497781.1:n.227+1527delinsCC
ENST00000647788.1:c.227+1527delinsCC	ENSP00000497769.1:n.227+1527delinsCC
ENST00000648055.1:n.2141delinsCC
ENST00000648271.1:c.227+1527delinsCC	ENSP00000497795.1:n.227+1527delinsCC
ENST00000648458.1:c.228-20delinsCC	ENSP00000497874.1:n.228-20delinsCC
ENST00000648807.1:c.228-20delinsCC	ENSP00000497472.1:n.228-20delinsCC
ENST00000648960.1:c.228-20delinsCC	ENSP00000497091.1:n.228-20delinsCC
ENST00000649067.1:c.228-20delinsCC	ENSP00000497052.1:n.228-20delinsCC
ENST00000649689.2:c.228-20delinsCC MANE Select	ENSP00000497569.1:n.228-20delinsCC
ENST00000650297.1:n.611-20delinsCC
ENST00000361951.4:c.228-20delinsCC	ENSP00000355086.4:n.228-20delinsCC
NM_018122.4:c.228-20delinsCC	NP_060592.2:n.228-20delinsCC
XM_006711427.2:c.228-20delinsCC	XP_006711490.1:n.228-20delinsCC
XM_011509711.1:c.228-20delinsCC	XP_011508013.1:n.228-20delinsCC
NM_001365212.1:c.228-20delinsCC	NP_001352141.1:n.228-20delinsCC
NM_001365213.1:c.228-20delinsCC	NP_001352142.1:n.228-20delinsCC
NM_018122.5:c.228-20delinsCC MANE Select	NP_060592.2:n.228-20delinsCC
NM_001365213.2:c.228-20delinsCC	NP_001352142.1:n.228-20delinsCC