Canonical Allele Identifier: CA2580096474

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1726084
• ClinVar RCV Id: RCV002307055

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664982del , CM000681.2:g.12664982del	GRCh38
NC_000019.9:g.12775796del , CM000681.1:g.12775796del	GRCh37
NC_000019.8:g.12636796del	NCBI36
NG_008318.1:g.6796del
NG_015814.1:g.3179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.440del MANE Select	ENSP00000395473.2:p.Arg147ProfsTer10
ENST00000221363.8:c.440del	ENSP00000221363.4:p.Arg147ProfsTer10
ENST00000456935.6:c.440del	ENSP00000395473.2:p.Arg147ProfsTer10
ENST00000466794.5:n.422del
ENST00000486847.2:c.333+370del	ENSP00000470174.1:n.333+370del
ENST00000596512.5:n.378del
ENST00000597961.1:c.431del	ENSP00000472710.1:p.Arg144ProfsTer10
ENST00000598876.1:c.467del	ENSP00000470533.1:p.Arg156ProfsTer10
NM_000528.3:c.440del	NP_000519.2:p.Arg147ProfsTer10
NM_001173498.1:c.440del	NP_001166969.1:p.Arg147ProfsTer10
XM_005259913.1:c.440del	XP_005259970.1:p.Arg147ProfsTer10
XM_005259913.2:c.440del	XP_005259970.1:p.Arg147ProfsTer10
XM_024451518.1:c.-579del	XP_024307286.1:n.-579del
NM_000528.4:c.440del MANE Select	NP_000519.2:p.Arg147ProfsTer10
NM_001173498.2:c.440del	NP_001166969.1:p.Arg147ProfsTer10