Canonical Allele Identifier: CA32783107

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173853444G>A , CM000663.2:g.173853444G>A	GRCh38
NC_000001.10:g.173822582G>A , CM000663.1:g.173822582G>A	GRCh37
NC_000001.9:g.172089205G>A	NCBI36
NG_016138.1:g.33786G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1440G>A MANE Select	NP_060592.2:p.Trp480Ter
ENST00000649689.2:c.1440G>A MANE Select	ENSP00000497569.1:p.Trp480Ter
NM_001365212.1:c.1287G>A	NP_001352141.1:p.Trp429Ter
NM_018122.4:c.1440G>A	NP_060592.2:p.Trp480Ter
ENST00000361951.4:c.1440G>A	ENSP00000355086.4:p.Trp480Ter
ENST00000471476.1:n.373G>A
ENST00000471476.2:c.*1130G>A	ENSP00000497663.1:n.*1130G>A
ENST00000647645.1:c.1377G>A	ENSP00000497450.1:p.Trp459Ter
ENST00000647730.1:c.*1130G>A	ENSP00000497781.1:n.*1130G>A
ENST00000647788.1:c.*819-3222G>A	ENSP00000497769.1:n.*819-3222G>A
ENST00000648271.1:c.*1130G>A	ENSP00000497795.1:n.*1130G>A
ENST00000648807.1:c.1287G>A	ENSP00000497472.1:p.Trp429Ter
ENST00000648960.1:c.1192-3222G>A	ENSP00000497091.1:n.1192-3222G>A
ENST00000649067.1:c.1287G>A	ENSP00000497052.1:p.Trp429Ter
ENST00000649106.1:c.719G>A
ENST00000650297.1:n.1823G>A
XM_006711427.2:c.1287G>A	XP_006711490.1:p.Trp429Ter