Canonical Allele Identifier: CA343759024

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173831554T>C , CM000663.2:g.173831554T>C	GRCh38
NC_000001.10:g.173800692T>C , CM000663.1:g.173800692T>C	GRCh37
NC_000001.9:g.172067315T>C	NCBI36
NG_016138.1:g.11896T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.416T>C MANE Select	NP_060592.2:p.Ile139Thr
ENST00000649689.2:c.416T>C MANE Select	ENSP00000497569.1:p.Ile139Thr
NM_001365212.1:c.416T>C	NP_001352141.1:p.Ile139Thr
NM_001365213.1:c.416T>C	NP_001352142.1:p.Ile139Thr
NM_001365213.2:c.416T>C	NP_001352142.1:p.Ile139Thr
NM_018122.4:c.416T>C	NP_060592.2:p.Ile139Thr
ENST00000361951.4:c.416T>C	ENSP00000355086.4:p.Ile139Thr
ENST00000471476.2:c.*106T>C	ENSP00000497663.1:n.*106T>C
ENST00000647645.1:c.416T>C	ENSP00000497450.1:p.Ile139Thr
ENST00000647730.1:c.*106T>C	ENSP00000497781.1:n.*106T>C
ENST00000647788.1:c.*106T>C	ENSP00000497769.1:n.*106T>C
ENST00000648271.1:c.*106T>C	ENSP00000497795.1:n.*106T>C
ENST00000648458.1:c.416T>C	ENSP00000497874.1:p.Ile139Thr
ENST00000648807.1:c.416T>C	ENSP00000497472.1:p.Ile139Thr
ENST00000648960.1:c.416T>C	ENSP00000497091.1:p.Ile139Thr
ENST00000649067.1:c.416T>C	ENSP00000497052.1:p.Ile139Thr
ENST00000650297.1:n.799T>C
XM_006711427.2:c.416T>C	XP_006711490.1:p.Ile139Thr
XM_011509711.1:c.416T>C	XP_011508013.1:p.Ile139Thr