Canonical Allele Identifier: CA343767681

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826718C>T (hg19) ; chr1:g.173857580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857580C>T , CM000663.2:g.173857580C>T	GRCh38
NC_000001.10:g.173826718C>T , CM000663.1:g.173826718C>T	GRCh37
NC_000001.9:g.172093341C>T	NCBI36
NG_016138.1:g.37922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1392C>T	ENSP00000497663.1:n.*1392C>T
ENST00000647645.1:c.1750C>T	ENSP00000497450.1:p.Pro584Ser
ENST00000647730.1:c.*1503C>T	ENSP00000497781.1:n.*1503C>T
ENST00000647788.1:c.*957C>T	ENSP00000497769.1:n.*957C>T
ENST00000648271.1:c.*2279C>T	ENSP00000497795.1:n.*2279C>T
ENST00000648807.1:c.1660C>T	ENSP00000497472.1:p.Pro554Ser
ENST00000648960.1:c.1330C>T	ENSP00000497091.1:p.Pro444Ser
ENST00000649067.1:c.*816C>T	ENSP00000497052.1:n.*816C>T
ENST00000649689.2:c.1813C>T MANE Select	ENSP00000497569.1:p.Pro605Ser
ENST00000361951.4:c.1813C>T	ENSP00000355086.4:p.Pro605Ser
ENST00000471476.1:n.635C>T
NM_018122.4:c.1813C>T	NP_060592.2:p.Pro605Ser
XM_006711427.2:c.1660C>T	XP_006711490.1:p.Pro554Ser
NM_001365212.1:c.1660C>T	NP_001352141.1:p.Pro554Ser
NM_018122.5:c.1813C>T MANE Select	NP_060592.2:p.Pro605Ser