Canonical Allele Identifier: CA2323498718
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647598A= , CM000681.2:g.12647598A= GRCh38
NC_000019.9:g.12758412A= , CM000681.1:g.12758412A= GRCh37
NC_000019.8:g.12619412A= NCBI36
NG_008318.1:g.24180T=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2665T= MANE Select ENSP00000395473.2:p.Phe889=
ENST00000221363.8:c.2662T= ENSP00000221363.4:p.Phe888=
ENST00000456935.6:c.2665T= ENSP00000395473.2:p.Phe889=
ENST00000466794.5:n.3255T=
ENST00000493218.5:n.76T=
ENST00000597692.1:c.224T=
NM_000528.3:c.2665T= NP_000519.2:p.Phe889=
NM_001173498.1:c.2662T= NP_001166969.1:p.Phe888=
XM_005259913.1:c.2668T= XP_005259970.1:p.Phe890=
XM_011528017.1:c.1564T= XP_011526319.1:p.Phe522=
XM_005259913.2:c.2668T= XP_005259970.1:p.Phe890=
XM_024451518.1:c.1564T= XP_024307286.1:p.Phe522=
NM_000528.4:c.2665T= MANE Select NP_000519.2:p.Phe889=
NM_001173498.2:c.2662T= NP_001166969.1:p.Phe888=