Canonical Allele Identifier: CA2739276548

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2808887
• ClinVar RCV Id: RCV003601504

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664987del , CM000681.2:g.12664987del	GRCh38
NC_000019.9:g.12775801del , CM000681.1:g.12775801del	GRCh37
NC_000019.8:g.12636801del	NCBI36
NG_008318.1:g.6791del
NG_015814.1:g.3184del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.437-2del MANE Select	ENSP00000395473.2:n.437-2del
ENST00000221363.8:c.437-2del	ENSP00000221363.4:n.437-2del
ENST00000456935.6:c.437-2del	ENSP00000395473.2:n.437-2del
ENST00000466794.5:n.419-2del
ENST00000486847.2:c.333+365del	ENSP00000470174.1:n.333+365del
ENST00000596512.5:n.375-2del
ENST00000597961.1:c.428-2del	ENSP00000472710.1:n.428-2del
ENST00000598876.1:c.464-2del	ENSP00000470533.1:n.464-2del
NM_000528.3:c.437-2del	NP_000519.2:n.437-2del
NM_001173498.1:c.437-2del	NP_001166969.1:n.437-2del
XM_005259913.1:c.437-2del	XP_005259970.1:n.437-2del
XM_005259913.2:c.437-2del	XP_005259970.1:n.437-2del
XM_024451518.1:c.-582-2del	XP_024307286.1:n.-582-2del
NM_000528.4:c.437-2del MANE Select	NP_000519.2:n.437-2del
NM_001173498.2:c.437-2del	NP_001166969.1:n.437-2del