Canonical Allele Identifier: CA2573951677
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857442A>C , CM000663.2:g.173857442A>C GRCh38
NC_000001.10:g.173826580A>C , CM000663.1:g.173826580A>C GRCh37
NC_000001.9:g.172093203A>C NCBI36
NG_016138.1:g.37784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1330-76A>C ENSP00000497663.1:n.*1330-76A>C
ENST00000647645.1:c.1688-76A>C ENSP00000497450.1:n.1688-76A>C
ENST00000647730.1:c.*1441-76A>C ENSP00000497781.1:n.*1441-76A>C
ENST00000647788.1:c.*895-76A>C ENSP00000497769.1:n.*895-76A>C
ENST00000648271.1:c.*2141A>C ENSP00000497795.1:n.*2141A>C
ENST00000648807.1:c.1598-76A>C ENSP00000497472.1:n.1598-76A>C
ENST00000648960.1:c.1268-76A>C ENSP00000497091.1:n.1268-76A>C
ENST00000649067.1:c.*678A>C ENSP00000497052.1:n.*678A>C
ENST00000649689.2:c.1751-76A>C MANE Select ENSP00000497569.1:n.1751-76A>C
ENST00000361951.4:c.1751-76A>C ENSP00000355086.4:n.1751-76A>C
ENST00000471476.1:n.573-76A>C
NM_018122.4:c.1751-76A>C NP_060592.2:n.1751-76A>C
XM_006711427.2:c.1598-76A>C XP_006711490.1:n.1598-76A>C
NM_001365212.1:c.1598-76A>C NP_001352141.1:n.1598-76A>C
NM_018122.5:c.1751-76A>C MANE Select NP_060592.2:n.1751-76A>C