Canonical Allele Identifier: CA783384367
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1185788035

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647518del , CM000681.2:g.12647518del GRCh38
NC_000019.9:g.12758332del , CM000681.1:g.12758332del GRCh37
NC_000019.8:g.12619332del NCBI36
NG_008318.1:g.24260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2745del MANE Select ENSP00000395473.2:p.Arg916AlafsTer8
ENST00000221363.8:c.2742del ENSP00000221363.4:p.Arg915AlafsTer8
ENST00000456935.6:c.2745del ENSP00000395473.2:p.Arg916AlafsTer8
ENST00000466794.5:n.3335del
ENST00000469423.1:n.67del
ENST00000493218.5:n.156del
ENST00000597692.1:c.304del
NM_000528.3:c.2745del NP_000519.2:p.Arg916AlafsTer8
NM_001173498.1:c.2742del NP_001166969.1:p.Arg915AlafsTer8
XM_005259913.1:c.2748del XP_005259970.1:p.Arg917AlafsTer8
XM_011528017.1:c.1644del XP_011526319.1:p.Arg549AlafsTer8
XM_005259913.2:c.2748del XP_005259970.1:p.Arg917AlafsTer8
XM_024451518.1:c.1644del XP_024307286.1:p.Arg549AlafsTer8
NM_000528.4:c.2745del MANE Select NP_000519.2:p.Arg916AlafsTer8
NM_001173498.2:c.2742del NP_001166969.1:p.Arg915AlafsTer8