Canonical Allele Identifier: CA1207913216
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857602A= , CM000663.2:g.173857602A= GRCh38
NC_000001.10:g.173826740A= , CM000663.1:g.173826740A= GRCh37
NC_000001.9:g.172093363A= NCBI36
NG_016138.1:g.37944A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1414A= ENSP00000497663.1:n.*1414A=
ENST00000647645.1:c.1772A= ENSP00000497450.1:p.Asp591=
ENST00000647730.1:c.*1525A= ENSP00000497781.1:n.*1525A=
ENST00000647788.1:c.*979A= ENSP00000497769.1:n.*979A=
ENST00000648271.1:c.*2301A= ENSP00000497795.1:n.*2301A=
ENST00000648807.1:c.1682A= ENSP00000497472.1:p.Asp561=
ENST00000648960.1:c.1352A= ENSP00000497091.1:p.Asp451=
ENST00000649067.1:c.*838A= ENSP00000497052.1:n.*838A=
ENST00000649689.2:c.1835A= MANE Select ENSP00000497569.1:p.Asp612=
ENST00000361951.4:c.1835A= ENSP00000355086.4:p.Asp612=
ENST00000471476.1:n.657A=
NM_018122.4:c.1835A= NP_060592.2:p.Asp612=
XM_006711427.2:c.1682A= XP_006711490.1:p.Asp561=
NM_001365212.1:c.1682A= NP_001352141.1:p.Asp561=
NM_018122.5:c.1835A= MANE Select NP_060592.2:p.Asp612=