Canonical Allele Identifier: CA1250075
Community Standard Title: NM_018122.5(DARS2):c.228-10C>G
Gene: DARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173828323C>G , CM000663.2:g.173828323C>G GRCh38
NC_000001.10:g.173797461C>G , CM000663.1:g.173797461C>G GRCh37
NC_000001.9:g.172064084C>G NCBI36
NG_016138.1:g.8665C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018122.5:c.228-10C>G MANE Select NP_060592.2:n.228-10C>G
ENST00000649689.2:c.228-10C>G MANE Select ENSP00000497569.1:n.228-10C>G
NM_001365212.1:c.228-10C>G NP_001352141.1:n.228-10C>G
NM_001365213.1:c.228-10C>G NP_001352142.1:n.228-10C>G
NM_001365213.2:c.228-10C>G NP_001352142.1:n.228-10C>G
NM_018122.4:c.228-10C>G NP_060592.2:n.228-10C>G
ENST00000361951.4:c.228-10C>G ENSP00000355086.4:n.228-10C>G
ENST00000471476.2:c.227+1537C>G ENSP00000497663.1:n.227+1537C>G
ENST00000647645.1:c.228-10C>G ENSP00000497450.1:n.228-10C>G
ENST00000647730.1:c.227+1537C>G ENSP00000497781.1:n.227+1537C>G
ENST00000647788.1:c.227+1537C>G ENSP00000497769.1:n.227+1537C>G
ENST00000648055.1:n.2151C>G
ENST00000648271.1:c.227+1537C>G ENSP00000497795.1:n.227+1537C>G
ENST00000648458.1:c.228-10C>G ENSP00000497874.1:n.228-10C>G
ENST00000648807.1:c.228-10C>G ENSP00000497472.1:n.228-10C>G
ENST00000648960.1:c.228-10C>G ENSP00000497091.1:n.228-10C>G
ENST00000649067.1:c.228-10C>G ENSP00000497052.1:n.228-10C>G
ENST00000650297.1:n.611-10C>G
XM_006711427.2:c.228-10C>G XP_006711490.1:n.228-10C>G
XM_011509711.1:c.228-10C>G XP_011508013.1:n.228-10C>G