Canonical Allele Identifier: CA343767561

Gene: DARS2

Linked Data

• dbSNP Id: rs1156832508
• gnomAD v3: 1-173857522-A-T
• gnomAD v4: 1-173857522-A-T
• MyVariant Identifiers: chr1:g.173826660A>T (hg19) ; chr1:g.173857522A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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