Canonical Allele Identifier: CA1250518

Gene: DARS2

Linked Data

• dbSNP Id: rs775204532
• ExAC: 1:173826657 G / T
• gnomAD v2: 1-173826657-G-T
• gnomAD v4: 1-173857519-G-T
• MyVariant Identifiers: chr1:g.173826657G>T (hg19) ; chr1:g.173857519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857519G>T , CM000663.2:g.173857519G>T	GRCh38
NC_000001.10:g.173826657G>T , CM000663.1:g.173826657G>T	GRCh37
NC_000001.9:g.172093280G>T	NCBI36
NG_016138.1:g.37861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1331G>T	ENSP00000497663.1:n.*1331G>T
ENST00000647645.1:c.1689G>T	ENSP00000497450.1:p.Gly563=
ENST00000647730.1:c.*1442G>T	ENSP00000497781.1:n.*1442G>T
ENST00000647788.1:c.*896G>T	ENSP00000497769.1:n.*896G>T
ENST00000648271.1:c.*2218G>T	ENSP00000497795.1:n.*2218G>T
ENST00000648807.1:c.1599G>T	ENSP00000497472.1:p.Gly533=
ENST00000648960.1:c.1269G>T	ENSP00000497091.1:p.Gly423=
ENST00000649067.1:c.*755G>T	ENSP00000497052.1:n.*755G>T
ENST00000649689.2:c.1752G>T MANE Select	ENSP00000497569.1:p.Gly584=
ENST00000361951.4:c.1752G>T	ENSP00000355086.4:p.Gly584=
ENST00000471476.1:n.574G>T
NM_018122.4:c.1752G>T	NP_060592.2:p.Gly584=
XM_006711427.2:c.1599G>T	XP_006711490.1:p.Gly533=
NM_001365212.1:c.1599G>T	NP_001352141.1:p.Gly533=
NM_018122.5:c.1752G>T MANE Select	NP_060592.2:p.Gly584=