Canonical Allele Identifier: CA208387

Gene: DARS2

Linked Data

• ClinVar Variation Id: 1062
• ClinVar RCV Id: RCV002464975 ; RCV002512635
• dbSNP Id: rs142433332
• ExAC: 1:173800770 T / C
• gnomAD v2: 1-173800770-T-C
• gnomAD v3: 1-173831632-T-C
• gnomAD v4: 1-173831632-T-C
• COSMIC: COSM328076
• MyVariant Identifiers: chr1:g.173800770T>C (hg19) ; chr1:g.173831632T>C (hg38)
• PubMed: PMID:17384640 ; PMID:19592391 ; PMID:20506600 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173831632T>C , CM000663.2:g.173831632T>C	GRCh38
NC_000001.10:g.173800770T>C , CM000663.1:g.173800770T>C	GRCh37
NC_000001.9:g.172067393T>C	NCBI36
NG_016138.1:g.11974T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*182+2T>C	ENSP00000497663.1:n.*182+2T>C
ENST00000647645.1:c.492+2T>C	ENSP00000497450.1:n.492+2T>C
ENST00000647730.1:c.*182+2T>C	ENSP00000497781.1:n.*182+2T>C
ENST00000647788.1:c.*182+2T>C	ENSP00000497769.1:n.*182+2T>C
ENST00000648271.1:c.*182+2T>C	ENSP00000497795.1:n.*182+2T>C
ENST00000648458.1:c.492+2T>C	ENSP00000497874.1:n.492+2T>C
ENST00000648807.1:c.492+2T>C	ENSP00000497472.1:n.492+2T>C
ENST00000648960.1:c.492+2T>C	ENSP00000497091.1:n.492+2T>C
ENST00000649067.1:c.492+2T>C	ENSP00000497052.1:n.492+2T>C
ENST00000649689.2:c.492+2T>C MANE Select	ENSP00000497569.1:n.492+2T>C
ENST00000650297.1:n.875+2T>C
ENST00000361951.4:c.492+2T>C	ENSP00000355086.4:n.492+2T>C
NM_018122.4:c.492+2T>C	NP_060592.2:n.492+2T>C
XM_006711427.2:c.492+2T>C	XP_006711490.1:n.492+2T>C
XM_011509711.1:c.492+2T>C	XP_011508013.1:n.492+2T>C
NM_001365212.1:c.492+2T>C	NP_001352141.1:n.492+2T>C
NM_001365213.1:c.492+2T>C	NP_001352142.1:n.492+2T>C
NM_018122.5:c.492+2T>C MANE Select	NP_060592.2:n.492+2T>C
NM_001365213.2:c.492+2T>C	NP_001352142.1:n.492+2T>C