Canonical Allele Identifier: CA343767578

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857530-T-A
• MyVariant Identifiers: chr1:g.173826668T>A (hg19) ; chr1:g.173857530T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857530T>A , CM000663.2:g.173857530T>A	GRCh38
NC_000001.10:g.173826668T>A , CM000663.1:g.173826668T>A	GRCh37
NC_000001.9:g.172093291T>A	NCBI36
NG_016138.1:g.37872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1342T>A	ENSP00000497663.1:n.*1342T>A
ENST00000647645.1:c.1700T>A	ENSP00000497450.1:p.Leu567Gln
ENST00000647730.1:c.*1453T>A	ENSP00000497781.1:n.*1453T>A
ENST00000647788.1:c.*907T>A	ENSP00000497769.1:n.*907T>A
ENST00000648271.1:c.*2229T>A	ENSP00000497795.1:n.*2229T>A
ENST00000648807.1:c.1610T>A	ENSP00000497472.1:p.Leu537Gln
ENST00000648960.1:c.1280T>A	ENSP00000497091.1:p.Leu427Gln
ENST00000649067.1:c.*766T>A	ENSP00000497052.1:n.*766T>A
ENST00000649689.2:c.1763T>A MANE Select	ENSP00000497569.1:p.Leu588Gln
ENST00000361951.4:c.1763T>A	ENSP00000355086.4:p.Leu588Gln
ENST00000471476.1:n.585T>A
NM_018122.4:c.1763T>A	NP_060592.2:p.Leu588Gln
XM_006711427.2:c.1610T>A	XP_006711490.1:p.Leu537Gln
NM_001365212.1:c.1610T>A	NP_001352141.1:p.Leu537Gln
NM_018122.5:c.1763T>A MANE Select	NP_060592.2:p.Leu588Gln