Canonical Allele Identifier: CA259925
Gene: DARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30863
dbSNP Id: rs200670286

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857592C>T , CM000663.2:g.173857592C>T GRCh38
NC_000001.10:g.173826730C>T , CM000663.1:g.173826730C>T GRCh37
NC_000001.9:g.172093353C>T NCBI36
NG_016138.1:g.37934C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000471476.2:c.*1404C>T ENSP00000497663.1:n.*1404C>T
ENST00000647645.1:c.1762C>T ENSP00000497450.1:p.Arg588Trp
ENST00000647730.1:c.*1515C>T ENSP00000497781.1:n.*1515C>T
ENST00000647788.1:c.*969C>T ENSP00000497769.1:n.*969C>T
ENST00000648271.1:c.*2291C>T ENSP00000497795.1:n.*2291C>T
ENST00000648807.1:c.1672C>T ENSP00000497472.1:p.Arg558Trp
ENST00000648960.1:c.1342C>T ENSP00000497091.1:p.Arg448Trp
ENST00000649067.1:c.*828C>T ENSP00000497052.1:n.*828C>T
ENST00000649689.2:c.1825C>T MANE Select ENSP00000497569.1:p.Arg609Trp
ENST00000361951.4:c.1825C>T ENSP00000355086.4:p.Arg609Trp
ENST00000471476.1:n.647C>T
NM_018122.4:c.1825C>T NP_060592.2:p.Arg609Trp
XM_006711427.2:c.1672C>T XP_006711490.1:p.Arg558Trp
NM_001365212.1:c.1672C>T NP_001352141.1:p.Arg558Trp
NM_018122.5:c.1825C>T MANE Select NP_060592.2:p.Arg609Trp