Canonical Allele Identifier: CA343767556

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826658T>G (hg19) ; chr1:g.173857520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857520T>G , CM000663.2:g.173857520T>G	GRCh38
NC_000001.10:g.173826658T>G , CM000663.1:g.173826658T>G	GRCh37
NC_000001.9:g.172093281T>G	NCBI36
NG_016138.1:g.37862T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1332T>G	ENSP00000497663.1:n.*1332T>G
ENST00000647645.1:c.1690T>G	ENSP00000497450.1:p.Leu564Val
ENST00000647730.1:c.*1443T>G	ENSP00000497781.1:n.*1443T>G
ENST00000647788.1:c.*897T>G	ENSP00000497769.1:n.*897T>G
ENST00000648271.1:c.*2219T>G	ENSP00000497795.1:n.*2219T>G
ENST00000648807.1:c.1600T>G	ENSP00000497472.1:p.Leu534Val
ENST00000648960.1:c.1270T>G	ENSP00000497091.1:p.Leu424Val
ENST00000649067.1:c.*756T>G	ENSP00000497052.1:n.*756T>G
ENST00000649689.2:c.1753T>G MANE Select	ENSP00000497569.1:p.Leu585Val
ENST00000361951.4:c.1753T>G	ENSP00000355086.4:p.Leu585Val
ENST00000471476.1:n.575T>G
NM_018122.4:c.1753T>G	NP_060592.2:p.Leu585Val
XM_006711427.2:c.1600T>G	XP_006711490.1:p.Leu534Val
NM_001365212.1:c.1600T>G	NP_001352141.1:p.Leu534Val
NM_018122.5:c.1753T>G MANE Select	NP_060592.2:p.Leu585Val