Canonical Allele Identifier: CA2323504430
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658541G= , CM000681.2:g.12658541G= GRCh38
NC_000019.9:g.12769355G= , CM000681.1:g.12769355G= GRCh37
NC_000019.8:g.12630355G= NCBI36
NG_008318.1:g.13237C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1027-31C= MANE Select ENSP00000395473.2:n.1027-31C=
ENST00000221363.8:c.1027-34C= ENSP00000221363.4:n.1027-34C=
ENST00000456935.6:c.1027-31C= ENSP00000395473.2:n.1027-31C=
ENST00000465830.1:n.77C=
ENST00000466794.5:n.1009-197C=
ENST00000495617.1:n.280+190C=
NM_000528.3:c.1027-31C= NP_000519.2:n.1027-31C=
NM_001173498.1:c.1027-34C= NP_001166969.1:n.1027-34C=
XM_005259913.1:c.1027-28C= XP_005259970.1:n.1027-28C=
XM_011528017.1:c.9-197C= XP_011526319.1:n.9-197C=
XM_005259913.2:c.1027-28C= XP_005259970.1:n.1027-28C=
XM_024451518.1:c.9-197C= XP_024307286.1:n.9-197C=
NM_000528.4:c.1027-31C= MANE Select NP_000519.2:n.1027-31C=
NM_001173498.2:c.1027-34C= NP_001166969.1:n.1027-34C=