Canonical Allele Identifier: CA343767558

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826659T>C (hg19) ; chr1:g.173857521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857521T>C , CM000663.2:g.173857521T>C	GRCh38
NC_000001.10:g.173826659T>C , CM000663.1:g.173826659T>C	GRCh37
NC_000001.9:g.172093282T>C	NCBI36
NG_016138.1:g.37863T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1333T>C	ENSP00000497663.1:n.*1333T>C
ENST00000647645.1:c.1691T>C	ENSP00000497450.1:p.Leu564Ser
ENST00000647730.1:c.*1444T>C	ENSP00000497781.1:n.*1444T>C
ENST00000647788.1:c.*898T>C	ENSP00000497769.1:n.*898T>C
ENST00000648271.1:c.*2220T>C	ENSP00000497795.1:n.*2220T>C
ENST00000648807.1:c.1601T>C	ENSP00000497472.1:p.Leu534Ser
ENST00000648960.1:c.1271T>C	ENSP00000497091.1:p.Leu424Ser
ENST00000649067.1:c.*757T>C	ENSP00000497052.1:n.*757T>C
ENST00000649689.2:c.1754T>C MANE Select	ENSP00000497569.1:p.Leu585Ser
ENST00000361951.4:c.1754T>C	ENSP00000355086.4:p.Leu585Ser
ENST00000471476.1:n.576T>C
NM_018122.4:c.1754T>C	NP_060592.2:p.Leu585Ser
XM_006711427.2:c.1601T>C	XP_006711490.1:p.Leu534Ser
NM_001365212.1:c.1601T>C	NP_001352141.1:p.Leu534Ser
NM_018122.5:c.1754T>C MANE Select	NP_060592.2:p.Leu585Ser