Canonical Allele Identifier: CA1141808719

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857530T= , CM000663.2:g.173857530T=	GRCh38
NC_000001.10:g.173826668T= , CM000663.1:g.173826668T=	GRCh37
NC_000001.9:g.172093291T=	NCBI36
NG_016138.1:g.37872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1342T=	ENSP00000497663.1:n.*1342T=
ENST00000647645.1:c.1700T=	ENSP00000497450.1:p.Leu567=
ENST00000647730.1:c.*1453T=	ENSP00000497781.1:n.*1453T=
ENST00000647788.1:c.*907T=	ENSP00000497769.1:n.*907T=
ENST00000648271.1:c.*2229T=	ENSP00000497795.1:n.*2229T=
ENST00000648807.1:c.1610T=	ENSP00000497472.1:p.Leu537=
ENST00000648960.1:c.1280T=	ENSP00000497091.1:p.Leu427=
ENST00000649067.1:c.*766T=	ENSP00000497052.1:n.*766T=
ENST00000649689.2:c.1763T= MANE Select	ENSP00000497569.1:p.Leu588=
ENST00000361951.4:c.1763T=	ENSP00000355086.4:p.Leu588=
ENST00000471476.1:n.585T=
NM_018122.4:c.1763T=	NP_060592.2:p.Leu588=
XM_006711427.2:c.1610T=	XP_006711490.1:p.Leu537=
NM_001365212.1:c.1610T=	NP_001352141.1:p.Leu537=
NM_018122.5:c.1763T= MANE Select	NP_060592.2:p.Leu588=