Canonical Allele Identifier: CA9226353
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs199588220

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655848G>T , CM000681.2:g.12655848G>T GRCh38
NC_000019.9:g.12766662G>T , CM000681.1:g.12766662G>T GRCh37
NC_000019.8:g.12627662G>T NCBI36
NG_008318.1:g.15930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1676C>A MANE Select ENSP00000395473.2:p.Ala559Glu
ENST00000221363.8:c.1673C>A ENSP00000221363.4:p.Ala558Glu
ENST00000433513.5:n.282C>A
ENST00000456935.6:c.1676C>A ENSP00000395473.2:p.Ala559Glu
ENST00000466794.5:n.2266C>A
ENST00000593686.1:c.269C>A
ENST00000595880.5:n.273C>A
ENST00000596591.1:c.40C>A
NM_000528.3:c.1676C>A NP_000519.2:p.Ala559Glu
NM_001173498.1:c.1673C>A NP_001166969.1:p.Ala558Glu
XM_005259913.1:c.1679C>A XP_005259970.1:p.Ala560Glu
XM_011528017.1:c.575C>A XP_011526319.1:p.Ala192Glu
XM_005259913.2:c.1679C>A XP_005259970.1:p.Ala560Glu
XM_024451518.1:c.575C>A XP_024307286.1:p.Ala192Glu
NM_000528.4:c.1676C>A MANE Select NP_000519.2:p.Ala559Glu
NM_001173498.2:c.1673C>A NP_001166969.1:p.Ala558Glu