Canonical Allele Identifier: CA1146010671
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857600T= , CM000663.2:g.173857600T= GRCh38
NC_000001.10:g.173826738T= , CM000663.1:g.173826738T= GRCh37
NC_000001.9:g.172093361T= NCBI36
NG_016138.1:g.37942T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1412T= ENSP00000497663.1:n.*1412T=
ENST00000647645.1:c.1770T= ENSP00000497450.1:p.His590=
ENST00000647730.1:c.*1523T= ENSP00000497781.1:n.*1523T=
ENST00000647788.1:c.*977T= ENSP00000497769.1:n.*977T=
ENST00000648271.1:c.*2299T= ENSP00000497795.1:n.*2299T=
ENST00000648807.1:c.1680T= ENSP00000497472.1:p.His560=
ENST00000648960.1:c.1350T= ENSP00000497091.1:p.His450=
ENST00000649067.1:c.*836T= ENSP00000497052.1:n.*836T=
ENST00000649689.2:c.1833T= MANE Select ENSP00000497569.1:p.His611=
ENST00000361951.4:c.1833T= ENSP00000355086.4:p.His611=
ENST00000471476.1:n.655T=
NM_018122.4:c.1833T= NP_060592.2:p.His611=
XM_006711427.2:c.1680T= XP_006711490.1:p.His560=
NM_001365212.1:c.1680T= NP_001352141.1:p.His560=
NM_018122.5:c.1833T= MANE Select NP_060592.2:p.His611=