Canonical Allele Identifier: CA343767736

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857607-A-C
• MyVariant Identifiers: chr1:g.173826745A>C (hg19) ; chr1:g.173857607A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857607A>C , CM000663.2:g.173857607A>C	GRCh38
NC_000001.10:g.173826745A>C , CM000663.1:g.173826745A>C	GRCh37
NC_000001.9:g.172093368A>C	NCBI36
NG_016138.1:g.37949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1419A>C	ENSP00000497663.1:n.*1419A>C
ENST00000647645.1:c.1777A>C	ENSP00000497450.1:p.Met593Leu
ENST00000647730.1:c.*1530A>C	ENSP00000497781.1:n.*1530A>C
ENST00000647788.1:c.*984A>C	ENSP00000497769.1:n.*984A>C
ENST00000648271.1:c.*2306A>C	ENSP00000497795.1:n.*2306A>C
ENST00000648807.1:c.1687A>C	ENSP00000497472.1:p.Met563Leu
ENST00000648960.1:c.1357A>C	ENSP00000497091.1:p.Met453Leu
ENST00000649067.1:c.*843A>C	ENSP00000497052.1:n.*843A>C
ENST00000649689.2:c.1840A>C MANE Select	ENSP00000497569.1:p.Met614Leu
ENST00000361951.4:c.1840A>C	ENSP00000355086.4:p.Met614Leu
ENST00000471476.1:n.662A>C
NM_018122.4:c.1840A>C	NP_060592.2:p.Met614Leu
XM_006711427.2:c.1687A>C	XP_006711490.1:p.Met563Leu
NM_001365212.1:c.1687A>C	NP_001352141.1:p.Met563Leu
NM_018122.5:c.1840A>C MANE Select	NP_060592.2:p.Met614Leu