Canonical Allele Identifier: CA343767910

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826809A>C (hg19) ; chr1:g.173857671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857671A>C , CM000663.2:g.173857671A>C	GRCh38
NC_000001.10:g.173826809A>C , CM000663.1:g.173826809A>C	GRCh37
NC_000001.9:g.172093432A>C	NCBI36
NG_016138.1:g.38013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1483A>C	ENSP00000497663.1:n.*1483A>C
ENST00000647645.1:c.1841A>C	ENSP00000497450.1:p.Lys614Thr
ENST00000647730.1:c.*1594A>C	ENSP00000497781.1:n.*1594A>C
ENST00000647788.1:c.*1048A>C	ENSP00000497769.1:n.*1048A>C
ENST00000648271.1:c.*2370A>C	ENSP00000497795.1:n.*2370A>C
ENST00000648807.1:c.1751A>C	ENSP00000497472.1:p.Lys584Thr
ENST00000648960.1:c.1421A>C	ENSP00000497091.1:p.Lys474Thr
ENST00000649067.1:c.*907A>C	ENSP00000497052.1:n.*907A>C
ENST00000649689.2:c.1904A>C MANE Select	ENSP00000497569.1:p.Lys635Thr
ENST00000361951.4:c.1904A>C	ENSP00000355086.4:p.Lys635Thr
ENST00000471476.1:n.726A>C
NM_018122.4:c.1904A>C	NP_060592.2:p.Lys635Thr
XM_006711427.2:c.1751A>C	XP_006711490.1:p.Lys584Thr
NM_001365212.1:c.1751A>C	NP_001352141.1:p.Lys584Thr
NM_018122.5:c.1904A>C MANE Select	NP_060592.2:p.Lys635Thr