Canonical Allele Identifier: CA1207913204
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857558C= , CM000663.2:g.173857558C= GRCh38
NC_000001.10:g.173826696C= , CM000663.1:g.173826696C= GRCh37
NC_000001.9:g.172093319C= NCBI36
NG_016138.1:g.37900C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1370C= ENSP00000497663.1:n.*1370C=
ENST00000647645.1:c.1728C= ENSP00000497450.1:p.Ser576=
ENST00000647730.1:c.*1481C= ENSP00000497781.1:n.*1481C=
ENST00000647788.1:c.*935C= ENSP00000497769.1:n.*935C=
ENST00000648271.1:c.*2257C= ENSP00000497795.1:n.*2257C=
ENST00000648807.1:c.1638C= ENSP00000497472.1:p.Ser546=
ENST00000648960.1:c.1308C= ENSP00000497091.1:p.Ser436=
ENST00000649067.1:c.*794C= ENSP00000497052.1:n.*794C=
ENST00000649689.2:c.1791C= MANE Select ENSP00000497569.1:p.Ser597=
ENST00000361951.4:c.1791C= ENSP00000355086.4:p.Ser597=
ENST00000471476.1:n.613C=
NM_018122.4:c.1791C= NP_060592.2:p.Ser597=
XM_006711427.2:c.1638C= XP_006711490.1:p.Ser546=
NM_001365212.1:c.1638C= NP_001352141.1:p.Ser546=
NM_018122.5:c.1791C= MANE Select NP_060592.2:p.Ser597=