Canonical Allele Identifier: CA421811998
Gene: DARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173826756C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857618C>G , CM000663.2:g.173857618C>G GRCh38
NC_000001.10:g.173826756C>G , CM000663.1:g.173826756C>G GRCh37
NC_000001.9:g.172093379C>G NCBI36
NG_016138.1:g.37960C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1430C>G ENSP00000497663.1:n.*1430C>G
ENST00000647645.1:c.1788C>G ENSP00000497450.1:p.Thr596=
ENST00000647730.1:c.*1541C>G ENSP00000497781.1:n.*1541C>G
ENST00000647788.1:c.*995C>G ENSP00000497769.1:n.*995C>G
ENST00000648271.1:c.*2317C>G ENSP00000497795.1:n.*2317C>G
ENST00000648807.1:c.1698C>G ENSP00000497472.1:p.Thr566=
ENST00000648960.1:c.1368C>G ENSP00000497091.1:p.Thr456=
ENST00000649067.1:c.*854C>G ENSP00000497052.1:n.*854C>G
ENST00000649689.2:c.1851C>G MANE Select ENSP00000497569.1:p.Thr617=
ENST00000361951.4:c.1851C>G ENSP00000355086.4:p.Thr617=
ENST00000471476.1:n.673C>G
NM_018122.4:c.1851C>G NP_060592.2:p.Thr617=
XM_006711427.2:c.1698C>G XP_006711490.1:p.Thr566=
NM_001365212.1:c.1698C>G NP_001352141.1:p.Thr566=
NM_018122.5:c.1851C>G MANE Select NP_060592.2:p.Thr617=