Canonical Allele Identifier: CA1141581214
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857644T= , CM000663.2:g.173857644T= GRCh38
NC_000001.10:g.173826782T= , CM000663.1:g.173826782T= GRCh37
NC_000001.9:g.172093405T= NCBI36
NG_016138.1:g.37986T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1456T= ENSP00000497663.1:n.*1456T=
ENST00000647645.1:c.1814T= ENSP00000497450.1:p.Leu605=
ENST00000647730.1:c.*1567T= ENSP00000497781.1:n.*1567T=
ENST00000647788.1:c.*1021T= ENSP00000497769.1:n.*1021T=
ENST00000648271.1:c.*2343T= ENSP00000497795.1:n.*2343T=
ENST00000648807.1:c.1724T= ENSP00000497472.1:p.Leu575=
ENST00000648960.1:c.1394T= ENSP00000497091.1:p.Leu465=
ENST00000649067.1:c.*880T= ENSP00000497052.1:n.*880T=
ENST00000649689.2:c.1877T= MANE Select ENSP00000497569.1:p.Leu626=
ENST00000361951.4:c.1877T= ENSP00000355086.4:p.Leu626=
ENST00000471476.1:n.699T=
NM_018122.4:c.1877T= NP_060592.2:p.Leu626=
XM_006711427.2:c.1724T= XP_006711490.1:p.Leu575=
NM_001365212.1:c.1724T= NP_001352141.1:p.Leu575=
NM_018122.5:c.1877T= MANE Select NP_060592.2:p.Leu626=