Canonical Allele Identifier: CA9225951

Gene: MAN2B1

Linked Data

• dbSNP Id: rs773821191
• ExAC: 19:12758417 GGGAGAGAGGGCGGGGCTGAGTT / G
• gnomAD v2: 19-12758417-GGGAGAGAGGGCGGGGCTGAGTT-G
• gnomAD v4: 19-12647603-GGGAGAGAGGGCGGGGCTGAGTT-G
• MyVariant Identifiers: chr19:g.12758418_12758439del (hg19) ; chr19:g.12647604_12647625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647610_12647631del , CM000681.2:g.12647610_12647631del	GRCh38
NC_000019.9:g.12758424_12758445del , CM000681.1:g.12758424_12758445del	GRCh37
NC_000019.8:g.12619424_12619445del	NCBI36
NG_008318.1:g.24153_24174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-27_2665-6del MANE Select	ENSP00000395473.2:n.2665-27_2665-6del
ENST00000221363.8:c.2662-27_2662-6del	ENSP00000221363.4:n.2662-27_2662-6del
ENST00000456935.6:c.2665-27_2665-6del	ENSP00000395473.2:n.2665-27_2665-6del
ENST00000466794.5:n.3255-27_3255-6del
ENST00000493218.5:n.49_70del
ENST00000597692.1:c.224-27_224-6del
NM_000528.3:c.2665-27_2665-6del	NP_000519.2:n.2665-27_2665-6del
NM_001173498.1:c.2662-27_2662-6del	NP_001166969.1:n.2662-27_2662-6del
XM_005259913.1:c.2668-27_2668-6del	XP_005259970.1:n.2668-27_2668-6del
XM_011528017.1:c.1564-27_1564-6del	XP_011526319.1:n.1564-27_1564-6del
XM_005259913.2:c.2668-27_2668-6del	XP_005259970.1:n.2668-27_2668-6del
XM_024451518.1:c.1564-27_1564-6del	XP_024307286.1:n.1564-27_1564-6del
NM_000528.4:c.2665-27_2665-6del MANE Select	NP_000519.2:n.2665-27_2665-6del
NM_001173498.2:c.2662-27_2662-6del	NP_001166969.1:n.2662-27_2662-6del