Canonical Allele Identifier: CA2739276551

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2836132
• ClinVar RCV Id: RCV003602167

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665689del , CM000681.2:g.12665689del	GRCh38
NC_000019.9:g.12776503del , CM000681.1:g.12776503del	GRCh37
NC_000019.8:g.12637503del	NCBI36
NG_008318.1:g.6092del
NG_015814.1:g.3886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.262+17del MANE Select	ENSP00000395473.2:n.262+17del
ENST00000221363.8:c.262+17del	ENSP00000221363.4:n.262+17del
ENST00000456935.6:c.262+17del	ENSP00000395473.2:n.262+17del
ENST00000466794.5:n.244+17del
ENST00000486847.2:c.160-161del	ENSP00000470174.1:n.160-161del
ENST00000596512.5:n.201-161del
ENST00000597961.1:c.253+17del	ENSP00000472710.1:n.253+17del
ENST00000598876.1:c.289+17del	ENSP00000470533.1:n.289+17del
ENST00000600281.1:n.303+17del
NM_000528.3:c.262+17del	NP_000519.2:n.262+17del
NM_001173498.1:c.262+17del	NP_001166969.1:n.262+17del
XM_005259913.1:c.262+17del	XP_005259970.1:n.262+17del
XM_005259913.2:c.262+17del	XP_005259970.1:n.262+17del
XM_024451518.1:c.-757+17del	XP_024307286.1:n.-757+17del
NM_000528.4:c.262+17del MANE Select	NP_000519.2:n.262+17del
NM_001173498.2:c.262+17del	NP_001166969.1:n.262+17del