Canonical Allele Identifier: CA343767730

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826742C>G (hg19) ; chr1:g.173857604C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857604C>G , CM000663.2:g.173857604C>G	GRCh38
NC_000001.10:g.173826742C>G , CM000663.1:g.173826742C>G	GRCh37
NC_000001.9:g.172093365C>G	NCBI36
NG_016138.1:g.37946C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1416C>G	ENSP00000497663.1:n.*1416C>G
ENST00000647645.1:c.1774C>G	ENSP00000497450.1:p.Leu592Val
ENST00000647730.1:c.*1527C>G	ENSP00000497781.1:n.*1527C>G
ENST00000647788.1:c.*981C>G	ENSP00000497769.1:n.*981C>G
ENST00000648271.1:c.*2303C>G	ENSP00000497795.1:n.*2303C>G
ENST00000648807.1:c.1684C>G	ENSP00000497472.1:p.Leu562Val
ENST00000648960.1:c.1354C>G	ENSP00000497091.1:p.Leu452Val
ENST00000649067.1:c.*840C>G	ENSP00000497052.1:n.*840C>G
ENST00000649689.2:c.1837C>G MANE Select	ENSP00000497569.1:p.Leu613Val
ENST00000361951.4:c.1837C>G	ENSP00000355086.4:p.Leu613Val
ENST00000471476.1:n.659C>G
NM_018122.4:c.1837C>G	NP_060592.2:p.Leu613Val
XM_006711427.2:c.1684C>G	XP_006711490.1:p.Leu562Val
NM_001365212.1:c.1684C>G	NP_001352141.1:p.Leu562Val
NM_018122.5:c.1837C>G MANE Select	NP_060592.2:p.Leu613Val