Canonical Allele Identifier: CA2573951979

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857655_173857656del , CM000663.2:g.173857655_173857656del	GRCh38
NC_000001.10:g.173826793_173826794del , CM000663.1:g.173826793_173826794del	GRCh37
NC_000001.9:g.172093416_172093417del	NCBI36
NG_016138.1:g.37997_37998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1467_*1468del	ENSP00000497663.1:n.*1467_*1468del
ENST00000647645.1:c.1825_1826del	ENSP00000497450.1:p.His609TyrfsTer25
ENST00000647730.1:c.*1578_*1579del	ENSP00000497781.1:n.*1578_*1579del
ENST00000647788.1:c.*1032_*1033del	ENSP00000497769.1:n.*1032_*1033del
ENST00000648271.1:c.*2354_*2355del	ENSP00000497795.1:n.*2354_*2355del
ENST00000648807.1:c.1735_1736del	ENSP00000497472.1:p.His579TyrfsTer25
ENST00000648960.1:c.1405_1406del	ENSP00000497091.1:p.His469TyrfsTer25
ENST00000649067.1:c.*891_*892del	ENSP00000497052.1:n.*891_*892del
ENST00000649689.2:c.1888_1889del MANE Select	ENSP00000497569.1:p.His630TyrfsTer25
ENST00000361951.4:c.1888_1889del	ENSP00000355086.4:p.His630TyrfsTer25
ENST00000471476.1:n.710_711del
NM_018122.4:c.1888_1889del	NP_060592.2:p.His630TyrfsTer25
XM_006711427.2:c.1735_1736del	XP_006711490.1:p.His579TyrfsTer25
NM_001365212.1:c.1735_1736del	NP_001352141.1:p.His579TyrfsTer25
NM_018122.5:c.1888_1889del MANE Select	NP_060592.2:p.His630TyrfsTer25