Canonical Allele Identifier: CA2740090408

Gene: DARS2

Linked Data

• ClinVar Variation Id: 3024559
• ClinVar RCV Id: RCV003885438

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173855410_173857820delinsGCAACATTTCGGCAACATTCCAACC , CM000663.2:g.173855410_173857820delinsGCAACATTTCGGCAACATTCCAACC	GRCh38
NC_000001.10:g.173824548_173826958delinsGCAACATTTCGGCAACATTCCAACC , CM000663.1:g.173824548_173826958delinsGCAACATTTCGGCAACATTCCAACC	GRCh37
NC_000001.9:g.172091171_172093581delinsGCAACATTTCGGCAACATTCCAACC	NCBI36
NG_016138.1:g.35752_38162delinsGCAACATTTCGGCAACATTCCAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1254-1256_*1632delinsGCAACATTTCGGCAACATTCCAACC
ENST00000647645.1:c.1612-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
ENST00000647730.1:c.*1365-1256_*1743delinsGCAACATTTCGGCAACATTCCAACC
ENST00000647788.1:c.*819-1256_*1197delinsGCAACATTTCGGCAACATTCCAACC
ENST00000648271.1:c.*1365-1256_*2519delinsGCAACATTTCGGCAACATTCCAACC
ENST00000648807.1:c.1522-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
ENST00000648960.1:c.1192-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
ENST00000649067.1:c.1522-1256_*1056delinsGCAACATTTCGGCAACATTCCAACC
ENST00000649689.2:c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
ENST00000361951.4:c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
ENST00000471476.1:n.497-1256_875delinsGCAACATTTCGGCAACATTCCAACC
NM_018122.4:c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
XM_006711427.2:c.1522-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
NM_001365212.1:c.1522-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
NM_018122.5:c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC