Canonical Allele Identifier: CA343767708

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826731G>T (hg19) ; chr1:g.173857593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857593G>T , CM000663.2:g.173857593G>T	GRCh38
NC_000001.10:g.173826731G>T , CM000663.1:g.173826731G>T	GRCh37
NC_000001.9:g.172093354G>T	NCBI36
NG_016138.1:g.37935G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1405G>T	ENSP00000497663.1:n.*1405G>T
ENST00000647645.1:c.1763G>T	ENSP00000497450.1:p.Arg588Leu
ENST00000647730.1:c.*1516G>T	ENSP00000497781.1:n.*1516G>T
ENST00000647788.1:c.*970G>T	ENSP00000497769.1:n.*970G>T
ENST00000648271.1:c.*2292G>T	ENSP00000497795.1:n.*2292G>T
ENST00000648807.1:c.1673G>T	ENSP00000497472.1:p.Arg558Leu
ENST00000648960.1:c.1343G>T	ENSP00000497091.1:p.Arg448Leu
ENST00000649067.1:c.*829G>T	ENSP00000497052.1:n.*829G>T
ENST00000649689.2:c.1826G>T MANE Select	ENSP00000497569.1:p.Arg609Leu
ENST00000361951.4:c.1826G>T	ENSP00000355086.4:p.Arg609Leu
ENST00000471476.1:n.648G>T
NM_018122.4:c.1826G>T	NP_060592.2:p.Arg609Leu
XM_006711427.2:c.1673G>T	XP_006711490.1:p.Arg558Leu
NM_001365212.1:c.1673G>T	NP_001352141.1:p.Arg558Leu
NM_018122.5:c.1826G>T MANE Select	NP_060592.2:p.Arg609Leu