Canonical Allele Identifier: CA343767560

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826660A>C (hg19) ; chr1:g.173857522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857522A>C , CM000663.2:g.173857522A>C	GRCh38
NC_000001.10:g.173826660A>C , CM000663.1:g.173826660A>C	GRCh37
NC_000001.9:g.172093283A>C	NCBI36
NG_016138.1:g.37864A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1334A>C	ENSP00000497663.1:n.*1334A>C
ENST00000647645.1:c.1692A>C	ENSP00000497450.1:p.Leu564Phe
ENST00000647730.1:c.*1445A>C	ENSP00000497781.1:n.*1445A>C
ENST00000647788.1:c.*899A>C	ENSP00000497769.1:n.*899A>C
ENST00000648271.1:c.*2221A>C	ENSP00000497795.1:n.*2221A>C
ENST00000648807.1:c.1602A>C	ENSP00000497472.1:p.Leu534Phe
ENST00000648960.1:c.1272A>C	ENSP00000497091.1:p.Leu424Phe
ENST00000649067.1:c.*758A>C	ENSP00000497052.1:n.*758A>C
ENST00000649689.2:c.1755A>C MANE Select	ENSP00000497569.1:p.Leu585Phe
ENST00000361951.4:c.1755A>C	ENSP00000355086.4:p.Leu585Phe
ENST00000471476.1:n.577A>C
NM_018122.4:c.1755A>C	NP_060592.2:p.Leu585Phe
XM_006711427.2:c.1602A>C	XP_006711490.1:p.Leu534Phe
NM_001365212.1:c.1602A>C	NP_001352141.1:p.Leu534Phe
NM_018122.5:c.1755A>C MANE Select	NP_060592.2:p.Leu585Phe