Canonical Allele Identifier: CA1139771323

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1676250
• ClinVar RCV Id: RCV002221412
• dbSNP Id: rs2145290970

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665803del , CM000681.2:g.12665803del	GRCh38
NC_000019.9:g.12776617del , CM000681.1:g.12776617del	GRCh37
NC_000019.8:g.12637617del	NCBI36
NG_008318.1:g.5975del
NG_015814.1:g.4000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.162del MANE Select	ENSP00000395473.2:p.Cys55AlafsTer9
ENST00000221363.8:c.162del	ENSP00000221363.4:p.Cys55AlafsTer9
ENST00000456935.6:c.162del	ENSP00000395473.2:p.Cys55AlafsTer9
ENST00000466794.5:n.144del
ENST00000486847.2:c.160-278del	ENSP00000470174.1:n.160-278del
ENST00000596512.5:n.201-278del
ENST00000597961.1:c.153del	ENSP00000472710.1:p.Cys52AlafsTer9
ENST00000598876.1:c.189del	ENSP00000470533.1:p.Cys64AlafsTer9
ENST00000600281.1:n.203del
NM_000528.3:c.162del	NP_000519.2:p.Cys55AlafsTer9
NM_001173498.1:c.162del	NP_001166969.1:p.Cys55AlafsTer9
XM_005259913.1:c.162del	XP_005259970.1:p.Cys55AlafsTer9
XM_005259913.2:c.162del	XP_005259970.1:p.Cys55AlafsTer9
XM_024451518.1:c.-857del	XP_024307286.1:n.-857del
NM_000528.4:c.162del MANE Select	NP_000519.2:p.Cys55AlafsTer9
NM_001173498.2:c.162del	NP_001166969.1:p.Cys55AlafsTer9