Canonical Allele Identifier: CA343766500

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173853454T>C , CM000663.2:g.173853454T>C	GRCh38
NC_000001.10:g.173822592T>C , CM000663.1:g.173822592T>C	GRCh37
NC_000001.9:g.172089215T>C	NCBI36
NG_016138.1:g.33796T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1450T>C MANE Select	NP_060592.2:p.Phe484Leu
ENST00000649689.2:c.1450T>C MANE Select	ENSP00000497569.1:p.Phe484Leu
NM_001365212.1:c.1297T>C	NP_001352141.1:p.Phe433Leu
NM_018122.4:c.1450T>C	NP_060592.2:p.Phe484Leu
ENST00000361951.4:c.1450T>C	ENSP00000355086.4:p.Phe484Leu
ENST00000471476.1:n.383T>C
ENST00000471476.2:c.*1140T>C	ENSP00000497663.1:n.*1140T>C
ENST00000647645.1:c.1387T>C	ENSP00000497450.1:p.Phe463Leu
ENST00000647730.1:c.*1140T>C	ENSP00000497781.1:n.*1140T>C
ENST00000647788.1:c.*819-3212T>C	ENSP00000497769.1:n.*819-3212T>C
ENST00000648271.1:c.*1140T>C	ENSP00000497795.1:n.*1140T>C
ENST00000648807.1:c.1297T>C	ENSP00000497472.1:p.Phe433Leu
ENST00000648960.1:c.1192-3212T>C	ENSP00000497091.1:n.1192-3212T>C
ENST00000649067.1:c.1297T>C	ENSP00000497052.1:p.Phe433Leu
ENST00000649106.1:c.729T>C
ENST00000650297.1:n.1833T>C
XM_006711427.2:c.1297T>C	XP_006711490.1:p.Phe433Leu