Canonical Allele Identifier: CA421811907
Gene: DARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173826690T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173857552T>G , CM000663.2:g.173857552T>G GRCh38
NC_000001.10:g.173826690T>G , CM000663.1:g.173826690T>G GRCh37
NC_000001.9:g.172093313T>G NCBI36
NG_016138.1:g.37894T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471476.2:c.*1364T>G ENSP00000497663.1:n.*1364T>G
ENST00000647645.1:c.1722T>G ENSP00000497450.1:p.Ser574=
ENST00000647730.1:c.*1475T>G ENSP00000497781.1:n.*1475T>G
ENST00000647788.1:c.*929T>G ENSP00000497769.1:n.*929T>G
ENST00000648271.1:c.*2251T>G ENSP00000497795.1:n.*2251T>G
ENST00000648807.1:c.1632T>G ENSP00000497472.1:p.Ser544=
ENST00000648960.1:c.1302T>G ENSP00000497091.1:p.Ser434=
ENST00000649067.1:c.*788T>G ENSP00000497052.1:n.*788T>G
ENST00000649689.2:c.1785T>G MANE Select ENSP00000497569.1:p.Ser595=
ENST00000361951.4:c.1785T>G ENSP00000355086.4:p.Ser595=
ENST00000471476.1:n.607T>G
NM_018122.4:c.1785T>G NP_060592.2:p.Ser595=
XM_006711427.2:c.1632T>G XP_006711490.1:p.Ser544=
NM_001365212.1:c.1632T>G NP_001352141.1:p.Ser544=
NM_018122.5:c.1785T>G MANE Select NP_060592.2:p.Ser595=