Canonical Allele Identifier: CA343767664

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826710T>A (hg19) ; chr1:g.173857572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857572T>A , CM000663.2:g.173857572T>A	GRCh38
NC_000001.10:g.173826710T>A , CM000663.1:g.173826710T>A	GRCh37
NC_000001.9:g.172093333T>A	NCBI36
NG_016138.1:g.37914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1384T>A	ENSP00000497663.1:n.*1384T>A
ENST00000647645.1:c.1742T>A	ENSP00000497450.1:p.Ile581Lys
ENST00000647730.1:c.*1495T>A	ENSP00000497781.1:n.*1495T>A
ENST00000647788.1:c.*949T>A	ENSP00000497769.1:n.*949T>A
ENST00000648271.1:c.*2271T>A	ENSP00000497795.1:n.*2271T>A
ENST00000648807.1:c.1652T>A	ENSP00000497472.1:p.Ile551Lys
ENST00000648960.1:c.1322T>A	ENSP00000497091.1:p.Ile441Lys
ENST00000649067.1:c.*808T>A	ENSP00000497052.1:n.*808T>A
ENST00000649689.2:c.1805T>A MANE Select	ENSP00000497569.1:p.Ile602Lys
ENST00000361951.4:c.1805T>A	ENSP00000355086.4:p.Ile602Lys
ENST00000471476.1:n.627T>A
NM_018122.4:c.1805T>A	NP_060592.2:p.Ile602Lys
XM_006711427.2:c.1652T>A	XP_006711490.1:p.Ile551Lys
NM_001365212.1:c.1652T>A	NP_001352141.1:p.Ile551Lys
NM_018122.5:c.1805T>A MANE Select	NP_060592.2:p.Ile602Lys