Canonical Allele Identifier: CA2582722710

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665831-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665833del , CM000681.2:g.12665833del	GRCh38
NC_000019.9:g.12776647del , CM000681.1:g.12776647del	GRCh37
NC_000019.8:g.12637647del	NCBI36
NG_008318.1:g.5946del
NG_015814.1:g.4030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.160-27del MANE Select	ENSP00000395473.2:n.160-27del
ENST00000221363.8:c.160-27del	ENSP00000221363.4:n.160-27del
ENST00000456935.6:c.160-27del	ENSP00000395473.2:n.160-27del
ENST00000466794.5:n.142-27del
ENST00000486847.2:c.160-307del	ENSP00000470174.1:n.160-307del
ENST00000596512.5:n.201-307del
ENST00000597961.1:c.151-27del	ENSP00000472710.1:n.151-27del
ENST00000598876.1:c.160del
ENST00000600281.1:n.201-27del
NM_000528.3:c.160-27del	NP_000519.2:n.160-27del
NM_001173498.1:c.160-27del	NP_001166969.1:n.160-27del
XM_005259913.1:c.160-27del	XP_005259970.1:n.160-27del
XM_005259913.2:c.160-27del	XP_005259970.1:n.160-27del
XM_024451518.1:c.-859-27del	XP_024307286.1:n.-859-27del
NM_000528.4:c.160-27del MANE Select	NP_000519.2:n.160-27del
NM_001173498.2:c.160-27del	NP_001166969.1:n.160-27del