Canonical Allele Identifier: CA9226435
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1363368
ClinVar RCV Id: RCV001902220
dbSNP Id: rs533428309

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657032G>A , CM000681.2:g.12657032G>A GRCh38
NC_000019.9:g.12767846G>A , CM000681.1:g.12767846G>A GRCh37
NC_000019.8:g.12628846G>A NCBI36
NG_008318.1:g.14746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1444C>T MANE Select ENSP00000395473.2:p.Arg482Trp
ENST00000221363.8:c.1441C>T ENSP00000221363.4:p.Arg481Trp
ENST00000433513.5:n.50C>T
ENST00000456935.6:c.1444C>T ENSP00000395473.2:p.Arg482Trp
ENST00000466794.5:n.1343C>T
ENST00000495617.1:n.620C>T
ENST00000593686.1:c.54C>T
ENST00000595880.5:n.41C>T
NM_000528.3:c.1444C>T NP_000519.2:p.Arg482Trp
NM_001173498.1:c.1441C>T NP_001166969.1:p.Arg481Trp
XM_005259913.1:c.1447C>T XP_005259970.1:p.Arg483Trp
XM_011528017.1:c.343C>T XP_011526319.1:p.Arg115Trp
XM_005259913.2:c.1447C>T XP_005259970.1:p.Arg483Trp
XM_024451518.1:c.343C>T XP_024307286.1:p.Arg115Trp
NM_000528.4:c.1444C>T MANE Select NP_000519.2:p.Arg482Trp
NM_001173498.2:c.1441C>T NP_001166969.1:p.Arg481Trp