Canonical Allele Identifier: CA16617025

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173853505C>T , CM000663.2:g.173853505C>T	GRCh38
NC_000001.10:g.173822643C>T , CM000663.1:g.173822643C>T	GRCh37
NC_000001.9:g.172089266C>T	NCBI36
NG_016138.1:g.33847C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1501C>T MANE Select	NP_060592.2:p.His501Tyr
ENST00000649689.2:c.1501C>T MANE Select	ENSP00000497569.1:p.His501Tyr
NM_001365212.1:c.1348C>T	NP_001352141.1:p.His450Tyr
NM_018122.4:c.1501C>T	NP_060592.2:p.His501Tyr
ENST00000361951.4:c.1501C>T	ENSP00000355086.4:p.His501Tyr
ENST00000471476.1:n.434C>T
ENST00000471476.2:c.*1191C>T	ENSP00000497663.1:n.*1191C>T
ENST00000647645.1:c.1438C>T	ENSP00000497450.1:p.His480Tyr
ENST00000647730.1:c.*1191C>T	ENSP00000497781.1:n.*1191C>T
ENST00000647788.1:c.*819-3161C>T	ENSP00000497769.1:n.*819-3161C>T
ENST00000648271.1:c.*1191C>T	ENSP00000497795.1:n.*1191C>T
ENST00000648807.1:c.1348C>T	ENSP00000497472.1:p.His450Tyr
ENST00000648960.1:c.1192-3161C>T	ENSP00000497091.1:n.1192-3161C>T
ENST00000649067.1:c.1348C>T	ENSP00000497052.1:p.His450Tyr
ENST00000649106.1:c.780C>T
ENST00000650297.1:n.1884C>T
XM_006711427.2:c.1348C>T	XP_006711490.1:p.His450Tyr