Canonical Allele Identifier: CA343767732

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826743T>C (hg19) ; chr1:g.173857605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857605T>C , CM000663.2:g.173857605T>C	GRCh38
NC_000001.10:g.173826743T>C , CM000663.1:g.173826743T>C	GRCh37
NC_000001.9:g.172093366T>C	NCBI36
NG_016138.1:g.37947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1417T>C	ENSP00000497663.1:n.*1417T>C
ENST00000647645.1:c.1775T>C	ENSP00000497450.1:p.Leu592Pro
ENST00000647730.1:c.*1528T>C	ENSP00000497781.1:n.*1528T>C
ENST00000647788.1:c.*982T>C	ENSP00000497769.1:n.*982T>C
ENST00000648271.1:c.*2304T>C	ENSP00000497795.1:n.*2304T>C
ENST00000648807.1:c.1685T>C	ENSP00000497472.1:p.Leu562Pro
ENST00000648960.1:c.1355T>C	ENSP00000497091.1:p.Leu452Pro
ENST00000649067.1:c.*841T>C	ENSP00000497052.1:n.*841T>C
ENST00000649689.2:c.1838T>C MANE Select	ENSP00000497569.1:p.Leu613Pro
ENST00000361951.4:c.1838T>C	ENSP00000355086.4:p.Leu613Pro
ENST00000471476.1:n.660T>C
NM_018122.4:c.1838T>C	NP_060592.2:p.Leu613Pro
XM_006711427.2:c.1685T>C	XP_006711490.1:p.Leu562Pro
NM_001365212.1:c.1685T>C	NP_001352141.1:p.Leu562Pro
NM_018122.5:c.1838T>C MANE Select	NP_060592.2:p.Leu613Pro