Canonical Allele Identifier: CA9225925
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328254
ClinVar RCV Id: RCV000392539
dbSNP Id: rs142248782

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647478G>A , CM000681.2:g.12647478G>A GRCh38
NC_000019.9:g.12758292G>A , CM000681.1:g.12758292G>A GRCh37
NC_000019.8:g.12619292G>A NCBI36
NG_008318.1:g.24300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2785C>T MANE Select ENSP00000395473.2:p.Arg929Cys
ENST00000221363.8:c.2782C>T ENSP00000221363.4:p.Arg928Cys
ENST00000456935.6:c.2785C>T ENSP00000395473.2:p.Arg929Cys
ENST00000466794.5:n.3375C>T
ENST00000469423.1:n.107C>T
ENST00000493218.5:n.196C>T
ENST00000597692.1:c.344C>T
NM_000528.3:c.2785C>T NP_000519.2:p.Arg929Cys
NM_001173498.1:c.2782C>T NP_001166969.1:p.Arg928Cys
XM_005259913.1:c.2788C>T XP_005259970.1:p.Arg930Cys
XM_011528017.1:c.1684C>T XP_011526319.1:p.Arg562Cys
XM_005259913.2:c.2788C>T XP_005259970.1:p.Arg930Cys
XM_024451518.1:c.1684C>T XP_024307286.1:p.Arg562Cys
NM_000528.4:c.2785C>T MANE Select NP_000519.2:p.Arg929Cys
NM_001173498.2:c.2782C>T NP_001166969.1:p.Arg928Cys