Canonical Allele Identifier: CA2582717392

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647630-AGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647636_12647640del , CM000681.2:g.12647636_12647640del	GRCh38
NC_000019.9:g.12758450_12758454del , CM000681.1:g.12758450_12758454del	GRCh37
NC_000019.8:g.12619450_12619454del	NCBI36
NG_008318.1:g.24143_24147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-37_2665-33del MANE Select	ENSP00000395473.2:n.2665-37_2665-33del
ENST00000221363.8:c.2662-37_2662-33del	ENSP00000221363.4:n.2662-37_2662-33del
ENST00000456935.6:c.2665-37_2665-33del	ENSP00000395473.2:n.2665-37_2665-33del
ENST00000466794.5:n.3255-37_3255-33del
ENST00000493218.5:n.39_43del
ENST00000597692.1:c.224-37_224-33del
NM_000528.3:c.2665-37_2665-33del	NP_000519.2:n.2665-37_2665-33del
NM_001173498.1:c.2662-37_2662-33del	NP_001166969.1:n.2662-37_2662-33del
XM_005259913.1:c.2668-37_2668-33del	XP_005259970.1:n.2668-37_2668-33del
XM_011528017.1:c.1564-37_1564-33del	XP_011526319.1:n.1564-37_1564-33del
XM_005259913.2:c.2668-37_2668-33del	XP_005259970.1:n.2668-37_2668-33del
XM_024451518.1:c.1564-37_1564-33del	XP_024307286.1:n.1564-37_1564-33del
NM_000528.4:c.2665-37_2665-33del MANE Select	NP_000519.2:n.2665-37_2665-33del
NM_001173498.2:c.2662-37_2662-33del	NP_001166969.1:n.2662-37_2662-33del