Canonical Allele Identifier: CA2739276531

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2864683
• ClinVar RCV Id: RCV003600019

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647527_12647572del , CM000681.2:g.12647527_12647572del	GRCh38
NC_000019.9:g.12758341_12758386del , CM000681.1:g.12758341_12758386del	GRCh37
NC_000019.8:g.12619341_12619386del	NCBI36
NG_008318.1:g.24207_24252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2692_2737del MANE Select	ENSP00000395473.2:p.Pro898CysfsTer11
ENST00000221363.8:c.2689_2734del	ENSP00000221363.4:p.Pro897CysfsTer11
ENST00000456935.6:c.2692_2737del	ENSP00000395473.2:p.Pro898CysfsTer11
ENST00000466794.5:n.3282_3327del
ENST00000469423.1:n.14_59del
ENST00000493218.5:n.103_148del
ENST00000597692.1:c.251_296del
NM_000528.3:c.2692_2737del	NP_000519.2:p.Pro898CysfsTer11
NM_001173498.1:c.2689_2734del	NP_001166969.1:p.Pro897CysfsTer11
XM_005259913.1:c.2695_2740del	XP_005259970.1:p.Pro899CysfsTer11
XM_011528017.1:c.1591_1636del	XP_011526319.1:p.Pro531CysfsTer11
XM_005259913.2:c.2695_2740del	XP_005259970.1:p.Pro899CysfsTer11
XM_024451518.1:c.1591_1636del	XP_024307286.1:p.Pro531CysfsTer11
NM_000528.4:c.2692_2737del MANE Select	NP_000519.2:p.Pro898CysfsTer11
NM_001173498.2:c.2689_2734del	NP_001166969.1:p.Pro897CysfsTer11