Canonical Allele Identifier: CA2323501230
Community Standard Title: NM_000528.4(MAN2B1):c.1851T= (p.Asp617=)
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12652440A= , CM000681.2:g.12652440A= GRCh38
NC_000019.9:g.12763254A= , CM000681.1:g.12763254A= GRCh37
NC_000019.8:g.12624254A= NCBI36
NG_008318.1:g.19338T=

Transcript Alleles

HGVS Amino-acid Change
NM_000528.4:c.1851T= MANE Select NP_000519.2:p.Asp617=
ENST00000456935.7:c.1851T= MANE Select ENSP00000395473.2:p.Asp617=
NM_000528.3:c.1851T= NP_000519.2:p.Asp617=
NM_001173498.1:c.1848T= NP_001166969.1:p.Asp616=
NM_001173498.2:c.1848T= NP_001166969.1:p.Asp616=
ENST00000221363.8:c.1848T= ENSP00000221363.4:p.Asp616=
ENST00000433513.5:n.457T=
ENST00000456935.6:c.1851T= ENSP00000395473.2:p.Asp617=
ENST00000466794.5:n.2441T=
ENST00000593686.1:c.444T=
ENST00000595880.5:n.448T=
ENST00000596591.1:c.195-11T=
XM_005259913.1:c.1854T= XP_005259970.1:p.Asp618=
XM_005259913.2:c.1854T= XP_005259970.1:p.Asp618=
XM_011528017.1:c.750T= XP_011526319.1:p.Asp250=
XM_024451518.1:c.750T= XP_024307286.1:p.Asp250=