Canonical Allele Identifier: CA2573694885

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857605del , CM000663.2:g.173857605del	GRCh38
NC_000001.10:g.173826743del , CM000663.1:g.173826743del	GRCh37
NC_000001.9:g.172093366del	NCBI36
NG_016138.1:g.37947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1417del	ENSP00000497663.1:n.*1417del
ENST00000647645.1:c.1775del	ENSP00000497450.1:p.Leu592ProfsTer2
ENST00000647730.1:c.*1528del	ENSP00000497781.1:n.*1528del
ENST00000647788.1:c.*982del	ENSP00000497769.1:n.*982del
ENST00000648271.1:c.*2304del	ENSP00000497795.1:n.*2304del
ENST00000648807.1:c.1685del	ENSP00000497472.1:p.Leu562ProfsTer2
ENST00000648960.1:c.1355del	ENSP00000497091.1:p.Leu452ProfsTer2
ENST00000649067.1:c.*841del	ENSP00000497052.1:n.*841del
ENST00000649689.2:c.1838del MANE Select	ENSP00000497569.1:p.Leu613ProfsTer2
ENST00000361951.4:c.1838del	ENSP00000355086.4:p.Leu613ProfsTer2
ENST00000471476.1:n.660del
NM_018122.4:c.1838del	NP_060592.2:p.Leu613ProfsTer2
XM_006711427.2:c.1685del	XP_006711490.1:p.Leu562ProfsTer2
NM_001365212.1:c.1685del	NP_001352141.1:p.Leu562ProfsTer2
NM_018122.5:c.1838del MANE Select	NP_060592.2:p.Leu613ProfsTer2