Canonical Allele Identifier: CA343759749
Gene: DARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427121
ClinVar RCV Id: RCV000490243
dbSNP Id: rs1085307970
MyVariant Identifiers: chr1:g.173802548T>C (hg19) chr1:g.173833410T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173833410T>C , CM000663.2:g.173833410T>C GRCh38
NC_000001.10:g.173802548T>C , CM000663.1:g.173802548T>C GRCh37
NC_000001.9:g.172069171T>C NCBI36
NG_016138.1:g.13752T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000471476.2:c.*217T>C ENSP00000497663.1:n.*217T>C
ENST00000647645.1:c.527T>C ENSP00000497450.1:p.Leu176Ser
ENST00000647730.1:c.*217T>C ENSP00000497781.1:n.*217T>C
ENST00000647788.1:c.*217T>C ENSP00000497769.1:n.*217T>C
ENST00000648271.1:c.*217T>C ENSP00000497795.1:n.*217T>C
ENST00000648458.1:c.527T>C ENSP00000497874.1:p.Leu176Ser
ENST00000648807.1:c.527T>C ENSP00000497472.1:p.Leu176Ser
ENST00000648960.1:c.527T>C ENSP00000497091.1:p.Leu176Ser
ENST00000649067.1:c.527T>C ENSP00000497052.1:p.Leu176Ser
ENST00000649689.2:c.527T>C MANE Select ENSP00000497569.1:p.Leu176Ser
ENST00000650297.1:n.910T>C
ENST00000361951.4:c.527T>C ENSP00000355086.4:p.Leu176Ser
NM_018122.4:c.527T>C NP_060592.2:p.Leu176Ser
XM_006711427.2:c.527T>C XP_006711490.1:p.Leu176Ser
XM_011509711.1:c.527T>C XP_011508013.1:p.Leu176Ser
NM_001365212.1:c.527T>C NP_001352141.1:p.Leu176Ser
NM_001365213.1:c.527T>C NP_001352142.1:p.Leu176Ser
NM_018122.5:c.527T>C MANE Select NP_060592.2:p.Leu176Ser
NM_001365213.2:c.527T>C NP_001352142.1:p.Leu176Ser
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