Canonical Allele Identifier: CA421811985

Gene: DARS2

Linked Data

• MyVariant Identifiers: chr1:g.173826744C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857606C>T , CM000663.2:g.173857606C>T	GRCh38
NC_000001.10:g.173826744C>T , CM000663.1:g.173826744C>T	GRCh37
NC_000001.9:g.172093367C>T	NCBI36
NG_016138.1:g.37948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1418C>T	ENSP00000497663.1:n.*1418C>T
ENST00000647645.1:c.1776C>T	ENSP00000497450.1:p.Leu592=
ENST00000647730.1:c.*1529C>T	ENSP00000497781.1:n.*1529C>T
ENST00000647788.1:c.*983C>T	ENSP00000497769.1:n.*983C>T
ENST00000648271.1:c.*2305C>T	ENSP00000497795.1:n.*2305C>T
ENST00000648807.1:c.1686C>T	ENSP00000497472.1:p.Leu562=
ENST00000648960.1:c.1356C>T	ENSP00000497091.1:p.Leu452=
ENST00000649067.1:c.*842C>T	ENSP00000497052.1:n.*842C>T
ENST00000649689.2:c.1839C>T MANE Select	ENSP00000497569.1:p.Leu613=
ENST00000361951.4:c.1839C>T	ENSP00000355086.4:p.Leu613=
ENST00000471476.1:n.661C>T
NM_018122.4:c.1839C>T	NP_060592.2:p.Leu613=
XM_006711427.2:c.1686C>T	XP_006711490.1:p.Leu562=
NM_001365212.1:c.1686C>T	NP_001352141.1:p.Leu562=
NM_018122.5:c.1839C>T MANE Select	NP_060592.2:p.Leu613=