Canonical Allele Identifier: CA343767621

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826691C>T (hg19) ; chr1:g.173857553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857553C>T , CM000663.2:g.173857553C>T	GRCh38
NC_000001.10:g.173826691C>T , CM000663.1:g.173826691C>T	GRCh37
NC_000001.9:g.172093314C>T	NCBI36
NG_016138.1:g.37895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1365C>T	ENSP00000497663.1:n.*1365C>T
ENST00000647645.1:c.1723C>T	ENSP00000497450.1:p.Pro575Ser
ENST00000647730.1:c.*1476C>T	ENSP00000497781.1:n.*1476C>T
ENST00000647788.1:c.*930C>T	ENSP00000497769.1:n.*930C>T
ENST00000648271.1:c.*2252C>T	ENSP00000497795.1:n.*2252C>T
ENST00000648807.1:c.1633C>T	ENSP00000497472.1:p.Pro545Ser
ENST00000648960.1:c.1303C>T	ENSP00000497091.1:p.Pro435Ser
ENST00000649067.1:c.*789C>T	ENSP00000497052.1:n.*789C>T
ENST00000649689.2:c.1786C>T MANE Select	ENSP00000497569.1:p.Pro596Ser
ENST00000361951.4:c.1786C>T	ENSP00000355086.4:p.Pro596Ser
ENST00000471476.1:n.608C>T
NM_018122.4:c.1786C>T	NP_060592.2:p.Pro596Ser
XM_006711427.2:c.1633C>T	XP_006711490.1:p.Pro545Ser
NM_001365212.1:c.1633C>T	NP_001352141.1:p.Pro545Ser
NM_018122.5:c.1786C>T MANE Select	NP_060592.2:p.Pro596Ser