Canonical Allele Identifier: CA2581952489

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647624-TTG-T
• gnomAD v4: 19-12647624-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647625_12647626del , CM000681.2:g.12647625_12647626del	GRCh38
NC_000019.9:g.12758439_12758440del , CM000681.1:g.12758439_12758440del	GRCh37
NC_000019.8:g.12619439_12619440del	NCBI36
NG_008318.1:g.24152_24153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-28_2665-27del MANE Select	ENSP00000395473.2:n.2665-28_2665-27del
ENST00000221363.8:c.2662-28_2662-27del	ENSP00000221363.4:n.2662-28_2662-27del
ENST00000456935.6:c.2665-28_2665-27del	ENSP00000395473.2:n.2665-28_2665-27del
ENST00000466794.5:n.3255-28_3255-27del
ENST00000493218.5:n.48_49del
ENST00000597692.1:c.224-28_224-27del
NM_000528.3:c.2665-28_2665-27del	NP_000519.2:n.2665-28_2665-27del
NM_001173498.1:c.2662-28_2662-27del	NP_001166969.1:n.2662-28_2662-27del
XM_005259913.1:c.2668-28_2668-27del	XP_005259970.1:n.2668-28_2668-27del
XM_011528017.1:c.1564-28_1564-27del	XP_011526319.1:n.1564-28_1564-27del
XM_005259913.2:c.2668-28_2668-27del	XP_005259970.1:n.2668-28_2668-27del
XM_024451518.1:c.1564-28_1564-27del	XP_024307286.1:n.1564-28_1564-27del
NM_000528.4:c.2665-28_2665-27del MANE Select	NP_000519.2:n.2665-28_2665-27del
NM_001173498.2:c.2662-28_2662-27del	NP_001166969.1:n.2662-28_2662-27del