Canonical Allele Identifier: CA1250161

Gene: DARS2

Linked Data

• ClinVar Variation Id: 2161271
• ClinVar RCV Id: RCV003089408
• dbSNP Id: rs758486944
• ExAC: 1:173802556 C / T
• gnomAD v2: 1-173802556-C-T
• gnomAD v3: 1-173833418-C-T
• gnomAD v4: 1-173833418-C-T
• MyVariant Identifiers: chr1:g.173802556C>T (hg19) ; chr1:g.173833418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173833418C>T , CM000663.2:g.173833418C>T	GRCh38
NC_000001.10:g.173802556C>T , CM000663.1:g.173802556C>T	GRCh37
NC_000001.9:g.172069179C>T	NCBI36
NG_016138.1:g.13760C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*225C>T	ENSP00000497663.1:n.*225C>T
ENST00000647645.1:c.535C>T	ENSP00000497450.1:p.Arg179Cys
ENST00000647730.1:c.*225C>T	ENSP00000497781.1:n.*225C>T
ENST00000647788.1:c.*225C>T	ENSP00000497769.1:n.*225C>T
ENST00000648271.1:c.*225C>T	ENSP00000497795.1:n.*225C>T
ENST00000648458.1:c.535C>T	ENSP00000497874.1:p.Arg179Cys
ENST00000648807.1:c.535C>T	ENSP00000497472.1:p.Arg179Cys
ENST00000648960.1:c.535C>T	ENSP00000497091.1:p.Arg179Cys
ENST00000649067.1:c.535C>T	ENSP00000497052.1:p.Arg179Cys
ENST00000649689.2:c.535C>T MANE Select	ENSP00000497569.1:p.Arg179Cys
ENST00000650297.1:n.918C>T
ENST00000361951.4:c.535C>T	ENSP00000355086.4:p.Arg179Cys
NM_018122.4:c.535C>T	NP_060592.2:p.Arg179Cys
XM_006711427.2:c.535C>T	XP_006711490.1:p.Arg179Cys
XM_011509711.1:c.535C>T	XP_011508013.1:p.Arg179Cys
NM_001365212.1:c.535C>T	NP_001352141.1:p.Arg179Cys
NM_001365213.1:c.535C>T	NP_001352142.1:p.Arg179Cys
NM_018122.5:c.535C>T MANE Select	NP_060592.2:p.Arg179Cys
NM_001365213.2:c.535C>T	NP_001352142.1:p.Arg179Cys