Canonical Allele Identifier: CA1207913217
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857603C= , CM000663.2:g.173857603C= GRCh38
NC_000001.10:g.173826741C= , CM000663.1:g.173826741C= GRCh37
NC_000001.9:g.172093364C= NCBI36
NG_016138.1:g.37945C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1415C= ENSP00000497663.1:n.*1415C=
ENST00000647645.1:c.1773C= ENSP00000497450.1:p.Asp591=
ENST00000647730.1:c.*1526C= ENSP00000497781.1:n.*1526C=
ENST00000647788.1:c.*980C= ENSP00000497769.1:n.*980C=
ENST00000648271.1:c.*2302C= ENSP00000497795.1:n.*2302C=
ENST00000648807.1:c.1683C= ENSP00000497472.1:p.Asp561=
ENST00000648960.1:c.1353C= ENSP00000497091.1:p.Asp451=
ENST00000649067.1:c.*839C= ENSP00000497052.1:n.*839C=
ENST00000649689.2:c.1836C= MANE Select ENSP00000497569.1:p.Asp612=
ENST00000361951.4:c.1836C= ENSP00000355086.4:p.Asp612=
ENST00000471476.1:n.658C=
NM_018122.4:c.1836C= NP_060592.2:p.Asp612=
XM_006711427.2:c.1683C= XP_006711490.1:p.Asp561=
NM_001365212.1:c.1683C= NP_001352141.1:p.Asp561=
NM_018122.5:c.1836C= MANE Select NP_060592.2:p.Asp612=