Canonical Allele Identifier: CA421811972

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857597-A-T
• MyVariant Identifiers: chr1:g.173826735A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857597A>T , CM000663.2:g.173857597A>T	GRCh38
NC_000001.10:g.173826735A>T , CM000663.1:g.173826735A>T	GRCh37
NC_000001.9:g.172093358A>T	NCBI36
NG_016138.1:g.37939A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1409A>T	ENSP00000497663.1:n.*1409A>T
ENST00000647645.1:c.1767A>T	ENSP00000497450.1:p.Gly589=
ENST00000647730.1:c.*1520A>T	ENSP00000497781.1:n.*1520A>T
ENST00000647788.1:c.*974A>T	ENSP00000497769.1:n.*974A>T
ENST00000648271.1:c.*2296A>T	ENSP00000497795.1:n.*2296A>T
ENST00000648807.1:c.1677A>T	ENSP00000497472.1:p.Gly559=
ENST00000648960.1:c.1347A>T	ENSP00000497091.1:p.Gly449=
ENST00000649067.1:c.*833A>T	ENSP00000497052.1:n.*833A>T
ENST00000649689.2:c.1830A>T MANE Select	ENSP00000497569.1:p.Gly610=
ENST00000361951.4:c.1830A>T	ENSP00000355086.4:p.Gly610=
ENST00000471476.1:n.652A>T
NM_018122.4:c.1830A>T	NP_060592.2:p.Gly610=
XM_006711427.2:c.1677A>T	XP_006711490.1:p.Gly559=
NM_001365212.1:c.1677A>T	NP_001352141.1:p.Gly559=
NM_018122.5:c.1830A>T MANE Select	NP_060592.2:p.Gly610=