Canonical Allele Identifier: CA1148229003
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857598C= , CM000663.2:g.173857598C= GRCh38
NC_000001.10:g.173826736C= , CM000663.1:g.173826736C= GRCh37
NC_000001.9:g.172093359C= NCBI36
NG_016138.1:g.37940C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1410C= ENSP00000497663.1:n.*1410C=
ENST00000647645.1:c.1768C= ENSP00000497450.1:p.His590=
ENST00000647730.1:c.*1521C= ENSP00000497781.1:n.*1521C=
ENST00000647788.1:c.*975C= ENSP00000497769.1:n.*975C=
ENST00000648271.1:c.*2297C= ENSP00000497795.1:n.*2297C=
ENST00000648807.1:c.1678C= ENSP00000497472.1:p.His560=
ENST00000648960.1:c.1348C= ENSP00000497091.1:p.His450=
ENST00000649067.1:c.*834C= ENSP00000497052.1:n.*834C=
ENST00000649689.2:c.1831C= MANE Select ENSP00000497569.1:p.His611=
ENST00000361951.4:c.1831C= ENSP00000355086.4:p.His611=
ENST00000471476.1:n.653C=
NM_018122.4:c.1831C= NP_060592.2:p.His611=
XM_006711427.2:c.1678C= XP_006711490.1:p.His560=
NM_001365212.1:c.1678C= NP_001352141.1:p.His560=
NM_018122.5:c.1831C= MANE Select NP_060592.2:p.His611=