Canonical Allele Identifier: CA117942
Gene: MOCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6110
dbSNP Id: rs398122798

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53101389_53101392del , CM000667.2:g.53101389_53101392del GRCh38
NC_000005.9:g.52397219_52397222del , CM000667.1:g.52397219_52397222del GRCh37
NC_000005.8:g.52432976_52432979del NCBI36
NG_008435.2:g.13379_13382del

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.346_349del MANE Select ENSP00000380157.3:p.Val116AsnfsTer3
ENST00000450852.8:c.*266_*269del MANE Plus Clinical ENSP00000411022.3:n.*266_*269del
ENST00000361377.8:c.*146+707_*146+710del ENSP00000355160.4:n.*146+707_*146+710del
ENST00000396954.7:c.346_349del ENSP00000380157.3:p.Val116AsnfsTer3
ENST00000450852.7:c.*266_*269del ENSP00000411022.3:n.*266_*269del
ENST00000502402.5:n.1269_1272del
ENST00000508922.5:c.*266_*269del ENSP00000426274.1:n.*266_*269del
ENST00000510818.6:c.*266_*269del ENSP00000424267.2:n.*266_*269del
ENST00000514553.2:n.531_534del
ENST00000527216.5:c.*266_*269del ENSP00000435326.1:n.*266_*269del
ENST00000582677.5:c.*19-856_*19-853del ENSP00000462870.1:n.*19-856_*19-853del
ENST00000584946.5:c.*138_*141del ENSP00000464663.1:n.*138_*141del
NM_004531.4:c.346_349del NP_004522.1:p.Val116AsnfsTer3
NM_176806.3:c.*266_*269del NP_789776.1:n.*266_*269del
NM_004531.5:c.346_349del MANE Select NP_004522.1:p.Val116AsnfsTer3
NM_176806.4:c.*266_*269del MANE Plus Clinical NP_789776.1:n.*266_*269del