Canonical Allele Identifier: CA1250533

Gene: DARS2

Linked Data

• dbSNP Id: rs745356318
• ExAC: 1:173826736 C / T
• gnomAD v2: 1-173826736-C-T
• gnomAD v3: 1-173857598-C-T
• gnomAD v4: 1-173857598-C-T
• MyVariant Identifiers: chr1:g.173826736C>T (hg19) ; chr1:g.173857598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857598C>T , CM000663.2:g.173857598C>T	GRCh38
NC_000001.10:g.173826736C>T , CM000663.1:g.173826736C>T	GRCh37
NC_000001.9:g.172093359C>T	NCBI36
NG_016138.1:g.37940C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*1410C>T	ENSP00000497663.1:n.*1410C>T
ENST00000647645.1:c.1768C>T	ENSP00000497450.1:p.His590Tyr
ENST00000647730.1:c.*1521C>T	ENSP00000497781.1:n.*1521C>T
ENST00000647788.1:c.*975C>T	ENSP00000497769.1:n.*975C>T
ENST00000648271.1:c.*2297C>T	ENSP00000497795.1:n.*2297C>T
ENST00000648807.1:c.1678C>T	ENSP00000497472.1:p.His560Tyr
ENST00000648960.1:c.1348C>T	ENSP00000497091.1:p.His450Tyr
ENST00000649067.1:c.*834C>T	ENSP00000497052.1:n.*834C>T
ENST00000649689.2:c.1831C>T MANE Select	ENSP00000497569.1:p.His611Tyr
ENST00000361951.4:c.1831C>T	ENSP00000355086.4:p.His611Tyr
ENST00000471476.1:n.653C>T
NM_018122.4:c.1831C>T	NP_060592.2:p.His611Tyr
XM_006711427.2:c.1678C>T	XP_006711490.1:p.His560Tyr
NM_001365212.1:c.1678C>T	NP_001352141.1:p.His560Tyr
NM_018122.5:c.1831C>T MANE Select	NP_060592.2:p.His611Tyr