Canonical Allele Identifier: CA2580073314

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 2021553
• ClinVar RCV Id: RCV002862738

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107105_53107115del , CM000667.2:g.53107105_53107115del	GRCh38
NC_000005.9:g.52402935_52402945del , CM000667.1:g.52402935_52402945del	GRCh37
NC_000005.8:g.52438692_52438702del	NCBI36
NG_008435.2:g.7654_7664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.60_70del MANE Select	ENSP00000380157.3:p.Pro21GlyfsTer3
ENST00000450852.8:c.247_257del MANE Plus Clinical	ENSP00000411022.3:p.Pro83TrpfsTer24
ENST00000361377.8:c.247_257del	ENSP00000355160.4:p.Pro83TrpfsTer24
ENST00000396954.7:c.60_70del	ENSP00000380157.3:p.Pro21GlyfsTer3
ENST00000450852.7:c.247_257del	ENSP00000411022.3:p.Pro83TrpfsTer24
ENST00000502402.5:n.983_993del
ENST00000508922.5:c.247_257del	ENSP00000426274.1:p.Pro83TrpfsTer24
ENST00000510818.6:c.247_257del	ENSP00000424267.2:p.Pro83TrpfsTer24
ENST00000514553.2:n.245_255del
ENST00000527216.5:c.232_242del	ENSP00000435326.1:p.Pro78TrpfsTer24
ENST00000582677.5:c.247_257del	ENSP00000462870.1:p.Pro83TrpfsTer19
ENST00000584946.5:c.247_257del	ENSP00000464663.1:p.Pro83TrpfsTer?
NM_004531.4:c.60_70del	NP_004522.1:p.Pro21GlyfsTer3
NM_176806.3:c.247_257del	NP_789776.1:p.Pro83TrpfsTer24
NM_004531.5:c.60_70del MANE Select	NP_004522.1:p.Pro21GlyfsTer3
NM_176806.4:c.247_257del MANE Plus Clinical	NP_789776.1:p.Pro83TrpfsTer24