Canonical Allele Identifier: CA9226566
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2538983
ClinVar RCV Id: RCV003291894
dbSNP Id: rs751774033

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658300T>C , CM000681.2:g.12658300T>C GRCh38
NC_000019.9:g.12769114T>C , CM000681.1:g.12769114T>C GRCh37
NC_000019.8:g.12630114T>C NCBI36
NG_008318.1:g.13478A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1154A>G MANE Select ENSP00000395473.2:p.His385Arg
ENST00000221363.8:c.1151A>G ENSP00000221363.4:p.His384Arg
ENST00000456935.6:c.1154A>G ENSP00000395473.2:p.His385Arg
ENST00000465830.1:n.318A>G
ENST00000466794.5:n.1053A>G
ENST00000495617.1:n.280+431A>G
NM_000528.3:c.1154A>G NP_000519.2:p.His385Arg
NM_001173498.1:c.1151A>G NP_001166969.1:p.His384Arg
XM_005259913.1:c.1157A>G XP_005259970.1:p.His386Arg
XM_011528017.1:c.53A>G XP_011526319.1:p.His18Arg
XM_005259913.2:c.1157A>G XP_005259970.1:p.His386Arg
XM_024451518.1:c.53A>G XP_024307286.1:p.His18Arg
NM_000528.4:c.1154A>G MANE Select NP_000519.2:p.His385Arg
NM_001173498.2:c.1151A>G NP_001166969.1:p.His384Arg