Canonical Allele Identifier: CA2323504435
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658550C= , CM000681.2:g.12658550C= GRCh38
NC_000019.9:g.12769364C= , CM000681.1:g.12769364C= GRCh37
NC_000019.8:g.12630364C= NCBI36
NG_008318.1:g.13228G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1027-40G= MANE Select ENSP00000395473.2:n.1027-40G=
ENST00000221363.8:c.1027-43G= ENSP00000221363.4:n.1027-43G=
ENST00000456935.6:c.1027-40G= ENSP00000395473.2:n.1027-40G=
ENST00000465830.1:n.68G=
ENST00000466794.5:n.1009-206G=
ENST00000495617.1:n.280+181G=
NM_000528.3:c.1027-40G= NP_000519.2:n.1027-40G=
NM_001173498.1:c.1027-43G= NP_001166969.1:n.1027-43G=
XM_005259913.1:c.1027-37G= XP_005259970.1:n.1027-37G=
XM_011528017.1:c.9-206G= XP_011526319.1:n.9-206G=
XM_005259913.2:c.1027-37G= XP_005259970.1:n.1027-37G=
XM_024451518.1:c.9-206G= XP_024307286.1:n.9-206G=
NM_000528.4:c.1027-40G= MANE Select NP_000519.2:n.1027-40G=
NM_001173498.2:c.1027-43G= NP_001166969.1:n.1027-43G=