Canonical Allele Identifier: CA891309392

Gene: DARS2

Linked Data

• dbSNP Id: rs1400745895
• gnomAD v3: 1-173857501-T-C
• gnomAD v4: 1-173857501-T-C
• MyVariant Identifiers: chr1:g.173826639T>C (hg19) ; chr1:g.173857501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857501T>C , CM000663.2:g.173857501T>C	GRCh38
NC_000001.10:g.173826639T>C , CM000663.1:g.173826639T>C	GRCh37
NC_000001.9:g.172093262T>C	NCBI36
NG_016138.1:g.37843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-17T>C	ENSP00000497663.1:n.*1330-17T>C
ENST00000647645.1:c.1688-17T>C	ENSP00000497450.1:n.1688-17T>C
ENST00000647730.1:c.*1441-17T>C	ENSP00000497781.1:n.*1441-17T>C
ENST00000647788.1:c.*895-17T>C	ENSP00000497769.1:n.*895-17T>C
ENST00000648271.1:c.*2200T>C	ENSP00000497795.1:n.*2200T>C
ENST00000648807.1:c.1598-17T>C	ENSP00000497472.1:n.1598-17T>C
ENST00000648960.1:c.1268-17T>C	ENSP00000497091.1:n.1268-17T>C
ENST00000649067.1:c.*737T>C	ENSP00000497052.1:n.*737T>C
ENST00000649689.2:c.1751-17T>C MANE Select	ENSP00000497569.1:n.1751-17T>C
ENST00000361951.4:c.1751-17T>C	ENSP00000355086.4:n.1751-17T>C
ENST00000471476.1:n.573-17T>C
NM_018122.4:c.1751-17T>C	NP_060592.2:n.1751-17T>C
XM_006711427.2:c.1598-17T>C	XP_006711490.1:n.1598-17T>C
NM_001365212.1:c.1598-17T>C	NP_001352141.1:n.1598-17T>C
NM_018122.5:c.1751-17T>C MANE Select	NP_060592.2:n.1751-17T>C