Canonical Allele Identifier: CA2582720398

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657249-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657249_12657250insG , CM000681.2:g.12657249_12657250insG	GRCh38
NC_000019.9:g.12768063_12768064insG , CM000681.1:g.12768063_12768064insG	GRCh37
NC_000019.8:g.12629063_12629064insG	NCBI36
NG_008318.1:g.14528_14529insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-194_1420-193insC MANE Select	ENSP00000395473.2:n.1420-194_1420-193insC
ENST00000221363.8:c.1417-194_1417-193insC	ENSP00000221363.4:n.1417-194_1417-193insC
ENST00000456935.6:c.1420-194_1420-193insC	ENSP00000395473.2:n.1420-194_1420-193insC
ENST00000466794.5:n.1319-194_1319-193insC
ENST00000495617.1:n.596-194_596-193insC
ENST00000593686.1:c.30-194_30-193insC
ENST00000595880.5:n.16+114_16+115insC
NM_000528.3:c.1420-194_1420-193insC	NP_000519.2:n.1420-194_1420-193insC
NM_001173498.1:c.1417-194_1417-193insC	NP_001166969.1:n.1417-194_1417-193insC
XM_005259913.1:c.1423-194_1423-193insC	XP_005259970.1:n.1423-194_1423-193insC
XM_011528017.1:c.319-194_319-193insC	XP_011526319.1:n.319-194_319-193insC
XM_005259913.2:c.1423-194_1423-193insC	XP_005259970.1:n.1423-194_1423-193insC
XM_024451518.1:c.319-194_319-193insC	XP_024307286.1:n.319-194_319-193insC
NM_000528.4:c.1420-194_1420-193insC MANE Select	NP_000519.2:n.1420-194_1420-193insC
NM_001173498.2:c.1417-194_1417-193insC	NP_001166969.1:n.1417-194_1417-193insC