Canonical Allele Identifier: CA1250439

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173853562A>C , CM000663.2:g.173853562A>C	GRCh38
NC_000001.10:g.173822700A>C , CM000663.1:g.173822700A>C	GRCh37
NC_000001.9:g.172089323A>C	NCBI36
NG_016138.1:g.33904A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1558A>C MANE Select	NP_060592.2:p.Lys520Gln
ENST00000649689.2:c.1558A>C MANE Select	ENSP00000497569.1:p.Lys520Gln
NM_001365212.1:c.1405A>C	NP_001352141.1:p.Lys469Gln
NM_018122.4:c.1558A>C	NP_060592.2:p.Lys520Gln
ENST00000361951.4:c.1558A>C	ENSP00000355086.4:p.Lys520Gln
ENST00000471476.1:n.491A>C
ENST00000471476.2:c.*1248A>C	ENSP00000497663.1:n.*1248A>C
ENST00000647645.1:c.1495A>C	ENSP00000497450.1:p.Lys499Gln
ENST00000647730.1:c.*1248A>C	ENSP00000497781.1:n.*1248A>C
ENST00000647788.1:c.*819-3104A>C	ENSP00000497769.1:n.*819-3104A>C
ENST00000648271.1:c.*1248A>C	ENSP00000497795.1:n.*1248A>C
ENST00000648807.1:c.1405A>C	ENSP00000497472.1:p.Lys469Gln
ENST00000648960.1:c.1192-3104A>C	ENSP00000497091.1:n.1192-3104A>C
ENST00000649067.1:c.1405A>C	ENSP00000497052.1:p.Lys469Gln
ENST00000649106.1:c.837A>C
ENST00000650297.1:n.1941A>C
XM_006711427.2:c.1405A>C	XP_006711490.1:p.Lys469Gln