Canonical Allele Identifier: CA2582717386

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647620-TGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAGGGCGGGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647624_12647665del , CM000681.2:g.12647624_12647665del	GRCh38
NC_000019.9:g.12758438_12758479del , CM000681.1:g.12758438_12758479del	GRCh37
NC_000019.8:g.12619438_12619479del	NCBI36
NG_008318.1:g.24116_24157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-64_2665-23del MANE Select	ENSP00000395473.2:n.2665-64_2665-23del
ENST00000221363.8:c.2662-64_2662-23del	ENSP00000221363.4:n.2662-64_2662-23del
ENST00000456935.6:c.2665-64_2665-23del	ENSP00000395473.2:n.2665-64_2665-23del
ENST00000466794.5:n.3255-64_3255-23del
ENST00000493218.5:n.12_53del
ENST00000597692.1:c.224-64_224-23del
NM_000528.3:c.2665-64_2665-23del	NP_000519.2:n.2665-64_2665-23del
NM_001173498.1:c.2662-64_2662-23del	NP_001166969.1:n.2662-64_2662-23del
XM_005259913.1:c.2668-64_2668-23del	XP_005259970.1:n.2668-64_2668-23del
XM_011528017.1:c.1564-64_1564-23del	XP_011526319.1:n.1564-64_1564-23del
XM_005259913.2:c.2668-64_2668-23del	XP_005259970.1:n.2668-64_2668-23del
XM_024451518.1:c.1564-64_1564-23del	XP_024307286.1:n.1564-64_1564-23del
NM_000528.4:c.2665-64_2665-23del MANE Select	NP_000519.2:n.2665-64_2665-23del
NM_001173498.2:c.2662-64_2662-23del	NP_001166969.1:n.2662-64_2662-23del