Canonical Allele Identifier: CA421811889

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826678T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857540T>G , CM000663.2:g.173857540T>G	GRCh38
NC_000001.10:g.173826678T>G , CM000663.1:g.173826678T>G	GRCh37
NC_000001.9:g.172093301T>G	NCBI36
NG_016138.1:g.37882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1352T>G	ENSP00000497663.1:n.*1352T>G
ENST00000647645.1:c.1710T>G	ENSP00000497450.1:p.Leu570=
ENST00000647730.1:c.*1463T>G	ENSP00000497781.1:n.*1463T>G
ENST00000647788.1:c.*917T>G	ENSP00000497769.1:n.*917T>G
ENST00000648271.1:c.*2239T>G	ENSP00000497795.1:n.*2239T>G
ENST00000648807.1:c.1620T>G	ENSP00000497472.1:p.Leu540=
ENST00000648960.1:c.1290T>G	ENSP00000497091.1:p.Leu430=
ENST00000649067.1:c.*776T>G	ENSP00000497052.1:n.*776T>G
ENST00000649689.2:c.1773T>G MANE Select	ENSP00000497569.1:p.Leu591=
ENST00000361951.4:c.1773T>G	ENSP00000355086.4:p.Leu591=
ENST00000471476.1:n.595T>G
NM_018122.4:c.1773T>G	NP_060592.2:p.Leu591=
XM_006711427.2:c.1620T>G	XP_006711490.1:p.Leu540=
NM_001365212.1:c.1620T>G	NP_001352141.1:p.Leu540=
NM_018122.5:c.1773T>G MANE Select	NP_060592.2:p.Leu591=