Canonical Allele Identifier: CA339865

Gene: DARS2

Linked Data

• ClinVar Variation Id: 1057
• ClinVar RCV Id: RCV000001112 ; RCV000415026 ; RCV000626945 ; RCV003332072
• dbSNP Id: rs1553201258
• MyVariant Identifiers: chr1:g.173797450_173797451delinsC (hg19) ; chr1:g.173828312_173828313delinsC (hg38)
• PubMed: PMID:17384640 ; PMID:19592391 ; PMID:20506600

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173828312_173828313delinsC , CM000663.2:g.173828312_173828313delinsC	GRCh38
NC_000001.10:g.173797450_173797451delinsC , CM000663.1:g.173797450_173797451delinsC	GRCh37
NC_000001.9:g.172064073_172064074delinsC	NCBI36
NG_016138.1:g.8654_8655delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.227+1526_227+1527delinsC	ENSP00000497663.1:n.227+1526_227+1527delinsC
ENST00000647645.1:c.228-21_228-20delinsC	ENSP00000497450.1:n.228-21_228-20delinsC
ENST00000647730.1:c.227+1526_227+1527delinsC	ENSP00000497781.1:n.227+1526_227+1527delinsC
ENST00000647788.1:c.227+1526_227+1527delinsC	ENSP00000497769.1:n.227+1526_227+1527delinsC
ENST00000648055.1:n.2140_2141delinsC
ENST00000648271.1:c.227+1526_227+1527delinsC	ENSP00000497795.1:n.227+1526_227+1527delinsC
ENST00000648458.1:c.228-21_228-20delinsC	ENSP00000497874.1:n.228-21_228-20delinsC
ENST00000648807.1:c.228-21_228-20delinsC	ENSP00000497472.1:n.228-21_228-20delinsC
ENST00000648960.1:c.228-21_228-20delinsC	ENSP00000497091.1:n.228-21_228-20delinsC
ENST00000649067.1:c.228-21_228-20delinsC	ENSP00000497052.1:n.228-21_228-20delinsC
ENST00000649689.2:c.228-21_228-20delinsC MANE Select	ENSP00000497569.1:n.228-21_228-20delinsC
ENST00000650297.1:n.611-21_611-20delinsC
ENST00000361951.4:c.228-21_228-20delinsC	ENSP00000355086.4:n.228-21_228-20delinsC
NM_018122.4:c.228-21_228-20delinsC	NP_060592.2:n.228-21_228-20delinsC
XM_006711427.2:c.228-21_228-20delinsC	XP_006711490.1:n.228-21_228-20delinsC
XM_011509711.1:c.228-21_228-20delinsC	XP_011508013.1:n.228-21_228-20delinsC
NM_001365212.1:c.228-21_228-20delinsC	NP_001352141.1:n.228-21_228-20delinsC
NM_001365213.1:c.228-21_228-20delinsC	NP_001352142.1:n.228-21_228-20delinsC
NM_018122.5:c.228-21_228-20delinsC MANE Select	NP_060592.2:n.228-21_228-20delinsC
NM_001365213.2:c.228-21_228-20delinsC	NP_001352142.1:n.228-21_228-20delinsC