Canonical Allele Identifier: CA1250055

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173828322_173828323dup , CM000663.2:g.173828322_173828323dup	GRCh38
NC_000001.10:g.173797460_173797461dup , CM000663.1:g.173797460_173797461dup	GRCh37
NC_000001.9:g.172064083_172064084dup	NCBI36
NG_016138.1:g.8664_8665dup

Transcript Alleles

HGVS	Amino-acid Change
NM_018122.5:c.228-11_228-10dup MANE Select	NP_060592.2:n.228-11_228-10dup
ENST00000649689.2:c.228-11_228-10dup MANE Select	ENSP00000497569.1:n.228-11_228-10dup
NM_001365212.1:c.228-11_228-10dup	NP_001352141.1:n.228-11_228-10dup
NM_001365213.1:c.228-11_228-10dup	NP_001352142.1:n.228-11_228-10dup
NM_001365213.2:c.228-11_228-10dup	NP_001352142.1:n.228-11_228-10dup
NM_018122.4:c.228-11_228-10dup	NP_060592.2:n.228-11_228-10dup
ENST00000361951.4:c.228-11_228-10dup	ENSP00000355086.4:n.228-11_228-10dup
ENST00000471476.2:c.227+1536_227+1537dup	ENSP00000497663.1:n.227+1536_227+1537dup
ENST00000647645.1:c.228-11_228-10dup	ENSP00000497450.1:n.228-11_228-10dup
ENST00000647730.1:c.227+1536_227+1537dup	ENSP00000497781.1:n.227+1536_227+1537dup
ENST00000647788.1:c.227+1536_227+1537dup	ENSP00000497769.1:n.227+1536_227+1537dup
ENST00000648055.1:n.2150_2151dup
ENST00000648271.1:c.227+1536_227+1537dup	ENSP00000497795.1:n.227+1536_227+1537dup
ENST00000648458.1:c.228-11_228-10dup	ENSP00000497874.1:n.228-11_228-10dup
ENST00000648807.1:c.228-11_228-10dup	ENSP00000497472.1:n.228-11_228-10dup
ENST00000648960.1:c.228-11_228-10dup	ENSP00000497091.1:n.228-11_228-10dup
ENST00000649067.1:c.228-11_228-10dup	ENSP00000497052.1:n.228-11_228-10dup
ENST00000650297.1:n.611-11_611-10dup
XM_006711427.2:c.228-11_228-10dup	XP_006711490.1:n.228-11_228-10dup
XM_011509711.1:c.228-11_228-10dup	XP_011508013.1:n.228-11_228-10dup