Canonical Allele Identifier: CA421811863

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826658T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857520T>C , CM000663.2:g.173857520T>C	GRCh38
NC_000001.10:g.173826658T>C , CM000663.1:g.173826658T>C	GRCh37
NC_000001.9:g.172093281T>C	NCBI36
NG_016138.1:g.37862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1332T>C	ENSP00000497663.1:n.*1332T>C
ENST00000647645.1:c.1690T>C	ENSP00000497450.1:p.Leu564=
ENST00000647730.1:c.*1443T>C	ENSP00000497781.1:n.*1443T>C
ENST00000647788.1:c.*897T>C	ENSP00000497769.1:n.*897T>C
ENST00000648271.1:c.*2219T>C	ENSP00000497795.1:n.*2219T>C
ENST00000648807.1:c.1600T>C	ENSP00000497472.1:p.Leu534=
ENST00000648960.1:c.1270T>C	ENSP00000497091.1:p.Leu424=
ENST00000649067.1:c.*756T>C	ENSP00000497052.1:n.*756T>C
ENST00000649689.2:c.1753T>C MANE Select	ENSP00000497569.1:p.Leu585=
ENST00000361951.4:c.1753T>C	ENSP00000355086.4:p.Leu585=
ENST00000471476.1:n.575T>C
NM_018122.4:c.1753T>C	NP_060592.2:p.Leu585=
XM_006711427.2:c.1600T>C	XP_006711490.1:p.Leu534=
NM_001365212.1:c.1600T>C	NP_001352141.1:p.Leu534=
NM_018122.5:c.1753T>C MANE Select	NP_060592.2:p.Leu585=