Canonical Allele Identifier: CA343767440

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173856693C>T , CM000663.2:g.173856693C>T	GRCh38
NC_000001.10:g.173825831C>T , CM000663.1:g.173825831C>T	GRCh37
NC_000001.9:g.172092454C>T	NCBI36
NG_016138.1:g.37035C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1702C>T MANE Select	NP_060592.2:p.Leu568Phe
ENST00000649689.2:c.1702C>T MANE Select	ENSP00000497569.1:p.Leu568Phe
NM_001365212.1:c.1549C>T	NP_001352141.1:p.Leu517Phe
NM_018122.4:c.1702C>T	NP_060592.2:p.Leu568Phe
ENST00000361951.4:c.1702C>T	ENSP00000355086.4:p.Leu568Phe
ENST00000471476.1:n.524C>T
ENST00000471476.2:c.*1281C>T	ENSP00000497663.1:n.*1281C>T
ENST00000647645.1:c.1639C>T	ENSP00000497450.1:p.Leu547Phe
ENST00000647730.1:c.*1392C>T	ENSP00000497781.1:n.*1392C>T
ENST00000647788.1:c.*846C>T	ENSP00000497769.1:n.*846C>T
ENST00000648271.1:c.*1392C>T	ENSP00000497795.1:n.*1392C>T
ENST00000648807.1:c.1549C>T	ENSP00000497472.1:p.Leu517Phe
ENST00000648960.1:c.1219C>T	ENSP00000497091.1:p.Leu407Phe
ENST00000649067.1:c.1549C>T	ENSP00000497052.1:p.Leu517Phe
XM_006711427.2:c.1549C>T	XP_006711490.1:p.Leu517Phe