Canonical Allele Identifier: CA350926
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208275
ClinVar RCV Id: RCV000206929
dbSNP Id: rs864621988

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647592C>T , CM000681.2:g.12647592C>T GRCh38
NC_000019.9:g.12758406C>T , CM000681.1:g.12758406C>T GRCh37
NC_000019.8:g.12619406C>T NCBI36
NG_008318.1:g.24186G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2671G>A MANE Select ENSP00000395473.2:p.Gly891Arg
ENST00000221363.8:c.2668G>A ENSP00000221363.4:p.Gly890Arg
ENST00000456935.6:c.2671G>A ENSP00000395473.2:p.Gly891Arg
ENST00000466794.5:n.3261G>A
ENST00000493218.5:n.82G>A
ENST00000597692.1:c.230G>A
NM_000528.3:c.2671G>A NP_000519.2:p.Gly891Arg
NM_001173498.1:c.2668G>A NP_001166969.1:p.Gly890Arg
XM_005259913.1:c.2674G>A XP_005259970.1:p.Gly892Arg
XM_011528017.1:c.1570G>A XP_011526319.1:p.Gly524Arg
XM_005259913.2:c.2674G>A XP_005259970.1:p.Gly892Arg
XM_024451518.1:c.1570G>A XP_024307286.1:p.Gly524Arg
NM_000528.4:c.2671G>A MANE Select NP_000519.2:p.Gly891Arg
NM_001173498.2:c.2668G>A NP_001166969.1:p.Gly890Arg