Canonical Allele Identifier: CA16041948
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370399
ClinVar RCV Id: RCV000409995
dbSNP Id: rs1057516459

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655743_12655752del , CM000681.2:g.12655743_12655752del GRCh38
NC_000019.9:g.12766557_12766566del , CM000681.1:g.12766557_12766566del GRCh37
NC_000019.8:g.12627557_12627566del NCBI36
NG_008318.1:g.16028_16037del

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1774_1783del MANE Select ENSP00000395473.2:p.Ala592ProfsTer11
ENST00000221363.8:c.1771_1780del ENSP00000221363.4:p.Ala591ProfsTer11
ENST00000433513.5:n.380_389del
ENST00000456935.6:c.1774_1783del ENSP00000395473.2:p.Ala592ProfsTer11
ENST00000466794.5:n.2364_2373del
ENST00000593686.1:c.367_376del
ENST00000595880.5:n.371_380del
ENST00000596591.1:c.138_147del
NM_000528.3:c.1774_1783del NP_000519.2:p.Ala592ProfsTer11
NM_001173498.1:c.1771_1780del NP_001166969.1:p.Ala591ProfsTer11
XM_005259913.1:c.1777_1786del XP_005259970.1:p.Ala593ProfsTer11
XM_011528017.1:c.673_682del XP_011526319.1:p.Ala225ProfsTer11
XM_005259913.2:c.1777_1786del XP_005259970.1:p.Ala593ProfsTer11
XM_024451518.1:c.673_682del XP_024307286.1:p.Ala225ProfsTer11
NM_000528.4:c.1774_1783del MANE Select NP_000519.2:p.Ala592ProfsTer11
NM_001173498.2:c.1771_1780del NP_001166969.1:p.Ala591ProfsTer11