Canonical Allele Identifier: CA2323505739
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12661355G= , CM000681.2:g.12661355G= GRCh38
NC_000019.9:g.12772169G= , CM000681.1:g.12772169G= GRCh37
NC_000019.8:g.12633169G= NCBI36
NG_008318.1:g.10423C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.931C= MANE Select ENSP00000395473.2:p.His311=
ENST00000221363.8:c.931C= ENSP00000221363.4:p.His311=
ENST00000456935.6:c.931C= ENSP00000395473.2:p.His311=
ENST00000462144.1:n.124C=
ENST00000466794.5:n.913C=
NM_000528.3:c.931C= NP_000519.2:p.His311=
NM_001173498.1:c.931C= NP_001166969.1:p.His311=
XM_005259913.1:c.931C= XP_005259970.1:p.His311=
XM_011528017.1:c.-88C= XP_011526319.1:n.-88C=
XM_005259913.2:c.931C= XP_005259970.1:p.His311=
XM_024451518.1:c.-88C= XP_024307286.1:n.-88C=
NM_000528.4:c.931C= MANE Select NP_000519.2:p.His311=
NM_001173498.2:c.931C= NP_001166969.1:p.His311=