Canonical Allele Identifier: CA343767638

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826698T>G (hg19) ; chr1:g.173857560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857560T>G , CM000663.2:g.173857560T>G	GRCh38
NC_000001.10:g.173826698T>G , CM000663.1:g.173826698T>G	GRCh37
NC_000001.9:g.172093321T>G	NCBI36
NG_016138.1:g.37902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1372T>G	ENSP00000497663.1:n.*1372T>G
ENST00000647645.1:c.1730T>G	ENSP00000497450.1:p.Ile577Ser
ENST00000647730.1:c.*1483T>G	ENSP00000497781.1:n.*1483T>G
ENST00000647788.1:c.*937T>G	ENSP00000497769.1:n.*937T>G
ENST00000648271.1:c.*2259T>G	ENSP00000497795.1:n.*2259T>G
ENST00000648807.1:c.1640T>G	ENSP00000497472.1:p.Ile547Ser
ENST00000648960.1:c.1310T>G	ENSP00000497091.1:p.Ile437Ser
ENST00000649067.1:c.*796T>G	ENSP00000497052.1:n.*796T>G
ENST00000649689.2:c.1793T>G MANE Select	ENSP00000497569.1:p.Ile598Ser
ENST00000361951.4:c.1793T>G	ENSP00000355086.4:p.Ile598Ser
ENST00000471476.1:n.615T>G
NM_018122.4:c.1793T>G	NP_060592.2:p.Ile598Ser
XM_006711427.2:c.1640T>G	XP_006711490.1:p.Ile547Ser
NM_001365212.1:c.1640T>G	NP_001352141.1:p.Ile547Ser
NM_018122.5:c.1793T>G MANE Select	NP_060592.2:p.Ile598Ser