Canonical Allele Identifier: CA290562

Gene: DARS2

Linked Data

• ClinVar Variation Id: 137065
• ClinVar RCV Id: RCV000124654 ; RCV000339409 ; RCV000676395
• dbSNP Id: rs73037062
• ExAC: 1:173803665 T / C
• gnomAD v2: 1-173803665-T-C
• gnomAD v3: 1-173834527-T-C
• gnomAD v4: 1-173834527-T-C
• MyVariant Identifiers: chr1:g.173803665T>C (hg19) ; chr1:g.173834527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173834527T>C , CM000663.2:g.173834527T>C	GRCh38
NC_000001.10:g.173803665T>C , CM000663.1:g.173803665T>C	GRCh37
NC_000001.9:g.172070288T>C	NCBI36
NG_016138.1:g.14869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*353+8T>C	ENSP00000497663.1:n.*353+8T>C
ENST00000647645.1:c.663+8T>C	ENSP00000497450.1:n.663+8T>C
ENST00000647730.1:c.*353+8T>C	ENSP00000497781.1:n.*353+8T>C
ENST00000647788.1:c.*353+8T>C	ENSP00000497769.1:n.*353+8T>C
ENST00000648271.1:c.*353+8T>C	ENSP00000497795.1:n.*353+8T>C
ENST00000648458.1:c.663+8T>C	ENSP00000497874.1:n.663+8T>C
ENST00000648807.1:c.663+8T>C	ENSP00000497472.1:n.663+8T>C
ENST00000648960.1:c.663+8T>C	ENSP00000497091.1:n.663+8T>C
ENST00000649067.1:c.663+8T>C	ENSP00000497052.1:n.663+8T>C
ENST00000649106.1:c.119+8T>C
ENST00000649689.2:c.663+8T>C MANE Select	ENSP00000497569.1:n.663+8T>C
ENST00000650297.1:n.1046+8T>C
ENST00000361951.4:c.663+8T>C	ENSP00000355086.4:n.663+8T>C
NM_018122.4:c.663+8T>C	NP_060592.2:n.663+8T>C
XM_006711427.2:c.663+8T>C	XP_006711490.1:n.663+8T>C
XM_011509711.1:c.663+8T>C	XP_011508013.1:n.663+8T>C
NM_001365212.1:c.663+8T>C	NP_001352141.1:n.663+8T>C
NM_001365213.1:c.663+8T>C	NP_001352142.1:n.663+8T>C
NM_018122.5:c.663+8T>C MANE Select	NP_060592.2:n.663+8T>C
NM_001365213.2:c.663+8T>C	NP_001352142.1:n.663+8T>C