Canonical Allele Identifier: CA2582717449

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647652-AGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647657_12647661del , CM000681.2:g.12647657_12647661del	GRCh38
NC_000019.9:g.12758471_12758475del , CM000681.1:g.12758471_12758475del	GRCh37
NC_000019.8:g.12619471_12619475del	NCBI36
NG_008318.1:g.24121_24125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-59_2665-55del MANE Select	ENSP00000395473.2:n.2665-59_2665-55del
ENST00000221363.8:c.2662-59_2662-55del	ENSP00000221363.4:n.2662-59_2662-55del
ENST00000456935.6:c.2665-59_2665-55del	ENSP00000395473.2:n.2665-59_2665-55del
ENST00000466794.5:n.3255-59_3255-55del
ENST00000493218.5:n.17_21del
ENST00000597692.1:c.224-59_224-55del
NM_000528.3:c.2665-59_2665-55del	NP_000519.2:n.2665-59_2665-55del
NM_001173498.1:c.2662-59_2662-55del	NP_001166969.1:n.2662-59_2662-55del
XM_005259913.1:c.2668-59_2668-55del	XP_005259970.1:n.2668-59_2668-55del
XM_011528017.1:c.1564-59_1564-55del	XP_011526319.1:n.1564-59_1564-55del
XM_005259913.2:c.2668-59_2668-55del	XP_005259970.1:n.2668-59_2668-55del
XM_024451518.1:c.1564-59_1564-55del	XP_024307286.1:n.1564-59_1564-55del
NM_000528.4:c.2665-59_2665-55del MANE Select	NP_000519.2:n.2665-59_2665-55del
NM_001173498.2:c.2662-59_2662-55del	NP_001166969.1:n.2662-59_2662-55del