Canonical Allele Identifier: CA339866
Gene: DARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061
dbSNP Id: rs121918208

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173831593G>T , CM000663.2:g.173831593G>T GRCh38
NC_000001.10:g.173800731G>T , CM000663.1:g.173800731G>T GRCh37
NC_000001.9:g.172067354G>T NCBI36
NG_016138.1:g.11935G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000471476.2:c.*145G>T ENSP00000497663.1:n.*145G>T
ENST00000647645.1:c.455G>T ENSP00000497450.1:p.Cys152Phe
ENST00000647730.1:c.*145G>T ENSP00000497781.1:n.*145G>T
ENST00000647788.1:c.*145G>T ENSP00000497769.1:n.*145G>T
ENST00000648271.1:c.*145G>T ENSP00000497795.1:n.*145G>T
ENST00000648458.1:c.455G>T ENSP00000497874.1:p.Cys152Phe
ENST00000648807.1:c.455G>T ENSP00000497472.1:p.Cys152Phe
ENST00000648960.1:c.455G>T ENSP00000497091.1:p.Cys152Phe
ENST00000649067.1:c.455G>T ENSP00000497052.1:p.Cys152Phe
ENST00000649689.2:c.455G>T MANE Select ENSP00000497569.1:p.Cys152Phe
ENST00000650297.1:n.838G>T
ENST00000361951.4:c.455G>T ENSP00000355086.4:p.Cys152Phe
NM_018122.4:c.455G>T NP_060592.2:p.Cys152Phe
XM_006711427.2:c.455G>T XP_006711490.1:p.Cys152Phe
XM_011509711.1:c.455G>T XP_011508013.1:p.Cys152Phe
NM_001365212.1:c.455G>T NP_001352141.1:p.Cys152Phe
NM_001365213.1:c.455G>T NP_001352142.1:p.Cys152Phe
NM_018122.5:c.455G>T MANE Select NP_060592.2:p.Cys152Phe
NM_001365213.2:c.455G>T NP_001352142.1:p.Cys152Phe