Canonical Allele Identifier: CA343766721

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173853556G>T , CM000663.2:g.173853556G>T	GRCh38
NC_000001.10:g.173822694G>T , CM000663.1:g.173822694G>T	GRCh37
NC_000001.9:g.172089317G>T	NCBI36
NG_016138.1:g.33898G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1552G>T MANE Select	NP_060592.2:p.Glu518Ter
ENST00000649689.2:c.1552G>T MANE Select	ENSP00000497569.1:p.Glu518Ter
NM_001365212.1:c.1399G>T	NP_001352141.1:p.Glu467Ter
NM_018122.4:c.1552G>T	NP_060592.2:p.Glu518Ter
ENST00000361951.4:c.1552G>T	ENSP00000355086.4:p.Glu518Ter
ENST00000471476.1:n.485G>T
ENST00000471476.2:c.*1242G>T	ENSP00000497663.1:n.*1242G>T
ENST00000647645.1:c.1489G>T	ENSP00000497450.1:p.Glu497Ter
ENST00000647730.1:c.*1242G>T	ENSP00000497781.1:n.*1242G>T
ENST00000647788.1:c.*819-3110G>T	ENSP00000497769.1:n.*819-3110G>T
ENST00000648271.1:c.*1242G>T	ENSP00000497795.1:n.*1242G>T
ENST00000648807.1:c.1399G>T	ENSP00000497472.1:p.Glu467Ter
ENST00000648960.1:c.1192-3110G>T	ENSP00000497091.1:n.1192-3110G>T
ENST00000649067.1:c.1399G>T	ENSP00000497052.1:p.Glu467Ter
ENST00000649106.1:c.831G>T
ENST00000650297.1:n.1935G>T
XM_006711427.2:c.1399G>T	XP_006711490.1:p.Glu467Ter