Canonical Allele Identifier: CA421811987
Gene: DARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173826746del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857608del , CM000663.2:g.173857608del GRCh38
NC_000001.10:g.173826746del , CM000663.1:g.173826746del GRCh37
NC_000001.9:g.172093369del NCBI36
NG_016138.1:g.37950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1420del ENSP00000497663.1:n.*1420del
ENST00000647645.1:c.1778del ENSP00000497450.1:p.Met593ArgfsTer13
ENST00000647730.1:c.*1531del ENSP00000497781.1:n.*1531del
ENST00000647788.1:c.*985del ENSP00000497769.1:n.*985del
ENST00000648271.1:c.*2307del ENSP00000497795.1:n.*2307del
ENST00000648807.1:c.1688del ENSP00000497472.1:p.Met563ArgfsTer13
ENST00000648960.1:c.1358del ENSP00000497091.1:p.Met453ArgfsTer13
ENST00000649067.1:c.*844del ENSP00000497052.1:n.*844del
ENST00000649689.2:c.1841del MANE Select ENSP00000497569.1:p.Met614ArgfsTer13
ENST00000361951.4:c.1841del ENSP00000355086.4:p.Met614ArgfsTer13
ENST00000471476.1:n.663del
NM_018122.4:c.1841del NP_060592.2:p.Met614ArgfsTer13
XM_006711427.2:c.1688del XP_006711490.1:p.Met563ArgfsTer13
NM_001365212.1:c.1688del NP_001352141.1:p.Met563ArgfsTer13
NM_018122.5:c.1841del MANE Select NP_060592.2:p.Met614ArgfsTer13