Canonical Allele Identifier: CA32784502

Gene: DARS2

Linked Data

• ClinVar Variation Id: 427120
• ClinVar RCV Id: RCV000489689 ; RCV001662476
• dbSNP Id: rs972404343
• gnomAD v4: 1-173857529-C-G
• MyVariant Identifiers: chr1:g.173826667C>G (hg19) ; chr1:g.173857529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857529C>G , CM000663.2:g.173857529C>G	GRCh38
NC_000001.10:g.173826667C>G , CM000663.1:g.173826667C>G	GRCh37
NC_000001.9:g.172093290C>G	NCBI36
NG_016138.1:g.37871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1341C>G	ENSP00000497663.1:n.*1341C>G
ENST00000647645.1:c.1699C>G	ENSP00000497450.1:p.Leu567Val
ENST00000647730.1:c.*1452C>G	ENSP00000497781.1:n.*1452C>G
ENST00000647788.1:c.*906C>G	ENSP00000497769.1:n.*906C>G
ENST00000648271.1:c.*2228C>G	ENSP00000497795.1:n.*2228C>G
ENST00000648807.1:c.1609C>G	ENSP00000497472.1:p.Leu537Val
ENST00000648960.1:c.1279C>G	ENSP00000497091.1:p.Leu427Val
ENST00000649067.1:c.*765C>G	ENSP00000497052.1:n.*765C>G
ENST00000649689.2:c.1762C>G MANE Select	ENSP00000497569.1:p.Leu588Val
ENST00000361951.4:c.1762C>G	ENSP00000355086.4:p.Leu588Val
ENST00000471476.1:n.584C>G
NM_018122.4:c.1762C>G	NP_060592.2:p.Leu588Val
XM_006711427.2:c.1609C>G	XP_006711490.1:p.Leu537Val
NM_001365212.1:c.1609C>G	NP_001352141.1:p.Leu537Val
NM_018122.5:c.1762C>G MANE Select	NP_060592.2:p.Leu588Val