Canonical Allele Identifier: CA343767592

Gene: DARS2

Linked Data

• dbSNP Id: rs1653899547
• gnomAD v3: 1-173857538-C-T
• gnomAD v4: 1-173857538-C-T
• MyVariant Identifiers: chr1:g.173826676C>T (hg19) ; chr1:g.173857538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857538C>T , CM000663.2:g.173857538C>T	GRCh38
NC_000001.10:g.173826676C>T , CM000663.1:g.173826676C>T	GRCh37
NC_000001.9:g.172093299C>T	NCBI36
NG_016138.1:g.37880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1350C>T	ENSP00000497663.1:n.*1350C>T
ENST00000647645.1:c.1708C>T	ENSP00000497450.1:p.Leu570Phe
ENST00000647730.1:c.*1461C>T	ENSP00000497781.1:n.*1461C>T
ENST00000647788.1:c.*915C>T	ENSP00000497769.1:n.*915C>T
ENST00000648271.1:c.*2237C>T	ENSP00000497795.1:n.*2237C>T
ENST00000648807.1:c.1618C>T	ENSP00000497472.1:p.Leu540Phe
ENST00000648960.1:c.1288C>T	ENSP00000497091.1:p.Leu430Phe
ENST00000649067.1:c.*774C>T	ENSP00000497052.1:n.*774C>T
ENST00000649689.2:c.1771C>T MANE Select	ENSP00000497569.1:p.Leu591Phe
ENST00000361951.4:c.1771C>T	ENSP00000355086.4:p.Leu591Phe
ENST00000471476.1:n.593C>T
NM_018122.4:c.1771C>T	NP_060592.2:p.Leu591Phe
XM_006711427.2:c.1618C>T	XP_006711490.1:p.Leu540Phe
NM_001365212.1:c.1618C>T	NP_001352141.1:p.Leu540Phe
NM_018122.5:c.1771C>T MANE Select	NP_060592.2:p.Leu591Phe