Canonical Allele Identifier: CA2580096478

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1726970
• ClinVar RCV Id: RCV002308445

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665374del , CM000681.2:g.12665374del	GRCh38
NC_000019.9:g.12776188del , CM000681.1:g.12776188del	GRCh37
NC_000019.8:g.12637188del	NCBI36
NG_008318.1:g.6404del
NG_015814.1:g.3571del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.414del MANE Select	ENSP00000395473.2:p.Val139CysfsTer18
ENST00000221363.8:c.414del	ENSP00000221363.4:p.Val139CysfsTer18
ENST00000456935.6:c.414del	ENSP00000395473.2:p.Val139CysfsTer18
ENST00000466794.5:n.396del
ENST00000486847.2:c.311del	ENSP00000470174.1:p.Ser104CysfsTer?
ENST00000596512.5:n.352del
ENST00000597961.1:c.405del	ENSP00000472710.1:p.Val136CysfsTer18
ENST00000598876.1:c.441del	ENSP00000470533.1:p.Val148CysfsTer18
ENST00000600281.1:n.455del
NM_000528.3:c.414del	NP_000519.2:p.Val139CysfsTer18
NM_001173498.1:c.414del	NP_001166969.1:p.Val139CysfsTer18
XM_005259913.1:c.414del	XP_005259970.1:p.Val139CysfsTer18
XM_005259913.2:c.414del	XP_005259970.1:p.Val139CysfsTer18
XM_024451518.1:c.-605del	XP_024307286.1:n.-605del
NM_000528.4:c.414del MANE Select	NP_000519.2:p.Val139CysfsTer18
NM_001173498.2:c.414del	NP_001166969.1:p.Val139CysfsTer18