Canonical Allele Identifier: CA343767738

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857608-T-C
• MyVariant Identifiers: chr1:g.173826746T>C (hg19) ; chr1:g.173857608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857608T>C , CM000663.2:g.173857608T>C	GRCh38
NC_000001.10:g.173826746T>C , CM000663.1:g.173826746T>C	GRCh37
NC_000001.9:g.172093369T>C	NCBI36
NG_016138.1:g.37950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1420T>C	ENSP00000497663.1:n.*1420T>C
ENST00000647645.1:c.1778T>C	ENSP00000497450.1:p.Met593Thr
ENST00000647730.1:c.*1531T>C	ENSP00000497781.1:n.*1531T>C
ENST00000647788.1:c.*985T>C	ENSP00000497769.1:n.*985T>C
ENST00000648271.1:c.*2307T>C	ENSP00000497795.1:n.*2307T>C
ENST00000648807.1:c.1688T>C	ENSP00000497472.1:p.Met563Thr
ENST00000648960.1:c.1358T>C	ENSP00000497091.1:p.Met453Thr
ENST00000649067.1:c.*844T>C	ENSP00000497052.1:n.*844T>C
ENST00000649689.2:c.1841T>C MANE Select	ENSP00000497569.1:p.Met614Thr
ENST00000361951.4:c.1841T>C	ENSP00000355086.4:p.Met614Thr
ENST00000471476.1:n.663T>C
NM_018122.4:c.1841T>C	NP_060592.2:p.Met614Thr
XM_006711427.2:c.1688T>C	XP_006711490.1:p.Met563Thr
NM_001365212.1:c.1688T>C	NP_001352141.1:p.Met563Thr
NM_018122.5:c.1841T>C MANE Select	NP_060592.2:p.Met614Thr