Canonical Allele Identifier: CA993664353

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647620-T-TA
• gnomAD v4: 19-12647620-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647620_12647621insA , CM000681.2:g.12647620_12647621insA	GRCh38
NC_000019.9:g.12758434_12758435insA , CM000681.1:g.12758434_12758435insA	GRCh37
NC_000019.8:g.12619434_12619435insA	NCBI36
NG_008318.1:g.24157_24158insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-23_2665-22insT MANE Select	ENSP00000395473.2:n.2665-23_2665-22insT
ENST00000221363.8:c.2662-23_2662-22insT	ENSP00000221363.4:n.2662-23_2662-22insT
ENST00000456935.6:c.2665-23_2665-22insT	ENSP00000395473.2:n.2665-23_2665-22insT
ENST00000466794.5:n.3255-23_3255-22insT
ENST00000493218.5:n.53_54insT
ENST00000597692.1:c.224-23_224-22insT
NM_000528.3:c.2665-23_2665-22insT	NP_000519.2:n.2665-23_2665-22insT
NM_001173498.1:c.2662-23_2662-22insT	NP_001166969.1:n.2662-23_2662-22insT
XM_005259913.1:c.2668-23_2668-22insT	XP_005259970.1:n.2668-23_2668-22insT
XM_011528017.1:c.1564-23_1564-22insT	XP_011526319.1:n.1564-23_1564-22insT
XM_005259913.2:c.2668-23_2668-22insT	XP_005259970.1:n.2668-23_2668-22insT
XM_024451518.1:c.1564-23_1564-22insT	XP_024307286.1:n.1564-23_1564-22insT
NM_000528.4:c.2665-23_2665-22insT MANE Select	NP_000519.2:n.2665-23_2665-22insT
NM_001173498.2:c.2662-23_2662-22insT	NP_001166969.1:n.2662-23_2662-22insT