Canonical Allele Identifier: CA117940
Gene: MOCS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6108
ClinVar RCV Id: RCV000006482
dbSNP Id: rs398122797

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098630_53098631del , CM000667.2:g.53098630_53098631del GRCh38
NC_000005.9:g.52394460_52394461del , CM000667.1:g.52394460_52394461del GRCh37
NC_000005.8:g.52430217_52430218del NCBI36
NG_008435.2:g.16139_16140del

Transcript Alleles

HGVS Amino-acid change
NM_004531.4:c.539_540del VV NP_004522.1:p.Lys180ArgfsTer?
NM_176806.3:c.*459_*460del VV NP_789776.1:p.=
NM_004531.5:c.539_540del VV MANE Preferred NP_004522.1:p.Lys180ArgfsTer?
ENST00000361377.8:c.*308_*309del ENSP00000355160.4:p.=
ENST00000396954.7:c.539_540del ENSP00000380157.3:p.Lys180ArgfsTer?
ENST00000450852.7:c.*459_*460del ENSP00000411022.3:p.=
ENST00000502402.5:n.2286_2287del
ENST00000508922.5:c.*379_*380del ENSP00000426274.1:p.=
ENST00000510818.6:c.*412_*413del ENSP00000424267.2:p.=
ENST00000582677.5:c.*180_*181del ENSP00000462870.1:p.=
ENST00000584946.5:c.*331_*332del ENSP00000464663.1:p.=