Canonical Allele Identifier: CA2580073316

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 2441783
• ClinVar RCV Id: RCV003148073

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107117del , CM000667.2:g.53107117del	GRCh38
NC_000005.9:g.52402947del , CM000667.1:g.52402947del	GRCh37
NC_000005.8:g.52438704del	NCBI36
NG_008435.2:g.7652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.58del MANE Select	ENSP00000380157.3:p.Ser20ProfsTer4
ENST00000450852.8:c.245del MANE Plus Clinical	ENSP00000411022.3:p.Ile82ThrfsTer?
ENST00000361377.8:c.245del	ENSP00000355160.4:p.Ile82ThrfsTer?
ENST00000396954.7:c.58del	ENSP00000380157.3:p.Ser20ProfsTer4
ENST00000450852.7:c.245del	ENSP00000411022.3:p.Ile82ThrfsTer?
ENST00000502402.5:n.981del
ENST00000508922.5:c.245del	ENSP00000426274.1:p.Ile82ThrfsTer?
ENST00000510818.6:c.245del	ENSP00000424267.2:p.Ile82ThrfsTer?
ENST00000514553.2:n.243del
ENST00000527216.5:c.230del	ENSP00000435326.1:p.Ile77ThrfsTer?
ENST00000582677.5:c.245del	ENSP00000462870.1:p.Ile82ThrfsTer?
ENST00000584946.5:c.245del	ENSP00000464663.1:p.Ile82ThrfsTer19
NM_004531.4:c.58del	NP_004522.1:p.Ser20ProfsTer4
NM_176806.3:c.245del	NP_789776.1:p.Ile82ThrfsTer?
NM_004531.5:c.58del MANE Select	NP_004522.1:p.Ser20ProfsTer4
NM_176806.4:c.245del MANE Plus Clinical	NP_789776.1:p.Ile82ThrfsTer?