Canonical Allele Identifier: CA1250517

Gene: DARS2

Linked Data

• ClinVar Variation Id: 1910742
• ClinVar RCV Id: RCV002578403
• dbSNP Id: rs150020568
• ExAC: 1:173826638 T / C
• gnomAD v2: 1-173826638-T-C
• gnomAD v3: 1-173857500-T-C
• gnomAD v4: 1-173857500-T-C
• MyVariant Identifiers: chr1:g.173826638T>C (hg19) ; chr1:g.173857500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857500T>C , CM000663.2:g.173857500T>C	GRCh38
NC_000001.10:g.173826638T>C , CM000663.1:g.173826638T>C	GRCh37
NC_000001.9:g.172093261T>C	NCBI36
NG_016138.1:g.37842T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1330-18T>C	ENSP00000497663.1:n.*1330-18T>C
ENST00000647645.1:c.1688-18T>C	ENSP00000497450.1:n.1688-18T>C
ENST00000647730.1:c.*1441-18T>C	ENSP00000497781.1:n.*1441-18T>C
ENST00000647788.1:c.*895-18T>C	ENSP00000497769.1:n.*895-18T>C
ENST00000648271.1:c.*2199T>C	ENSP00000497795.1:n.*2199T>C
ENST00000648807.1:c.1598-18T>C	ENSP00000497472.1:n.1598-18T>C
ENST00000648960.1:c.1268-18T>C	ENSP00000497091.1:n.1268-18T>C
ENST00000649067.1:c.*736T>C	ENSP00000497052.1:n.*736T>C
ENST00000649689.2:c.1751-18T>C MANE Select	ENSP00000497569.1:n.1751-18T>C
ENST00000361951.4:c.1751-18T>C	ENSP00000355086.4:n.1751-18T>C
ENST00000471476.1:n.573-18T>C
NM_018122.4:c.1751-18T>C	NP_060592.2:n.1751-18T>C
XM_006711427.2:c.1598-18T>C	XP_006711490.1:n.1598-18T>C
NM_001365212.1:c.1598-18T>C	NP_001352141.1:n.1598-18T>C
NM_018122.5:c.1751-18T>C MANE Select	NP_060592.2:n.1751-18T>C