Canonical Allele Identifier: CA1250158

Gene: DARS2

Linked Data

• ClinVar Variation Id: 451749
• ClinVar RCV Id: RCV000523575
• dbSNP Id: rs759658461
• ExAC: 1:173802530 G / A
• gnomAD v2: 1-173802530-G-A
• gnomAD v3: 1-173833392-G-A
• gnomAD v4: 1-173833392-G-A
• MyVariant Identifiers: chr1:g.173802530G>A (hg19) ; chr1:g.173833392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173833392G>A , CM000663.2:g.173833392G>A	GRCh38
NC_000001.10:g.173802530G>A , CM000663.1:g.173802530G>A	GRCh37
NC_000001.9:g.172069153G>A	NCBI36
NG_016138.1:g.13734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*199G>A	ENSP00000497663.1:n.*199G>A
ENST00000647645.1:c.509G>A	ENSP00000497450.1:p.Arg170Gln
ENST00000647730.1:c.*199G>A	ENSP00000497781.1:n.*199G>A
ENST00000647788.1:c.*199G>A	ENSP00000497769.1:n.*199G>A
ENST00000648271.1:c.*199G>A	ENSP00000497795.1:n.*199G>A
ENST00000648458.1:c.509G>A	ENSP00000497874.1:p.Arg170Gln
ENST00000648807.1:c.509G>A	ENSP00000497472.1:p.Arg170Gln
ENST00000648960.1:c.509G>A	ENSP00000497091.1:p.Arg170Gln
ENST00000649067.1:c.509G>A	ENSP00000497052.1:p.Arg170Gln
ENST00000649689.2:c.509G>A MANE Select	ENSP00000497569.1:p.Arg170Gln
ENST00000650297.1:n.892G>A
ENST00000361951.4:c.509G>A	ENSP00000355086.4:p.Arg170Gln
NM_018122.4:c.509G>A	NP_060592.2:p.Arg170Gln
XM_006711427.2:c.509G>A	XP_006711490.1:p.Arg170Gln
XM_011509711.1:c.509G>A	XP_011508013.1:p.Arg170Gln
NM_001365212.1:c.509G>A	NP_001352141.1:p.Arg170Gln
NM_001365213.1:c.509G>A	NP_001352142.1:p.Arg170Gln
NM_018122.5:c.509G>A MANE Select	NP_060592.2:p.Arg170Gln
NM_001365213.2:c.509G>A	NP_001352142.1:p.Arg170Gln