Canonical Allele Identifier: CA2323504427
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658537C= , CM000681.2:g.12658537C= GRCh38
NC_000019.9:g.12769351C= , CM000681.1:g.12769351C= GRCh37
NC_000019.8:g.12630351C= NCBI36
NG_008318.1:g.13241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1027-27G= MANE Select ENSP00000395473.2:n.1027-27G=
ENST00000221363.8:c.1027-30G= ENSP00000221363.4:n.1027-30G=
ENST00000456935.6:c.1027-27G= ENSP00000395473.2:n.1027-27G=
ENST00000465830.1:n.81G=
ENST00000466794.5:n.1009-193G=
ENST00000495617.1:n.280+194G=
NM_000528.3:c.1027-27G= NP_000519.2:n.1027-27G=
NM_001173498.1:c.1027-30G= NP_001166969.1:n.1027-30G=
XM_005259913.1:c.1027-24G= XP_005259970.1:n.1027-24G=
XM_011528017.1:c.9-193G= XP_011526319.1:n.9-193G=
XM_005259913.2:c.1027-24G= XP_005259970.1:n.1027-24G=
XM_024451518.1:c.9-193G= XP_024307286.1:n.9-193G=
NM_000528.4:c.1027-27G= MANE Select NP_000519.2:n.1027-27G=
NM_001173498.2:c.1027-30G= NP_001166969.1:n.1027-30G=