Canonical Allele Identifier: CA1250508

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173856752T>C , CM000663.2:g.173856752T>C	GRCh38
NC_000001.10:g.173825890T>C , CM000663.1:g.173825890T>C	GRCh37
NC_000001.9:g.172092513T>C	NCBI36
NG_016138.1:g.37094T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.1750+11T>C MANE Select	NP_060592.2:n.1750+11T>C
ENST00000649689.2:c.1750+11T>C MANE Select	ENSP00000497569.1:n.1750+11T>C
NM_001365212.1:c.1597+11T>C	NP_001352141.1:n.1597+11T>C
NM_018122.4:c.1750+11T>C	NP_060592.2:n.1750+11T>C
ENST00000361951.4:c.1750+11T>C	ENSP00000355086.4:n.1750+11T>C
ENST00000471476.1:n.572+11T>C
ENST00000471476.2:c.*1329+11T>C	ENSP00000497663.1:n.*1329+11T>C
ENST00000647645.1:c.1687+11T>C	ENSP00000497450.1:n.1687+11T>C
ENST00000647730.1:c.*1440+11T>C	ENSP00000497781.1:n.*1440+11T>C
ENST00000647788.1:c.*894+11T>C	ENSP00000497769.1:n.*894+11T>C
ENST00000648271.1:c.*1451T>C	ENSP00000497795.1:n.*1451T>C
ENST00000648807.1:c.1597+11T>C	ENSP00000497472.1:n.1597+11T>C
ENST00000648960.1:c.1267+11T>C	ENSP00000497091.1:n.1267+11T>C
ENST00000649067.1:c.1608T>C	ENSP00000497052.1:p.Leu536=
XM_006711427.2:c.1597+11T>C	XP_006711490.1:n.1597+11T>C