Canonical Allele Identifier: CA2323506829
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663615G= , CM000681.2:g.12663615G= GRCh38
NC_000019.9:g.12774429G= , CM000681.1:g.12774429G= GRCh37
NC_000019.8:g.12635429G= NCBI36
NG_008318.1:g.8163C=
NG_015814.1:g.1812G=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.763+88C= MANE Select ENSP00000395473.2:n.763+88C=
ENST00000221363.8:c.763+88C= ENSP00000221363.4:n.763+88C=
ENST00000456935.6:c.763+88C= ENSP00000395473.2:n.763+88C=
ENST00000466794.5:n.745+88C=
ENST00000486847.2:c.466+88C= ENSP00000470174.1:n.466+88C=
NM_000528.3:c.763+88C= NP_000519.2:n.763+88C=
NM_001173498.1:c.763+88C= NP_001166969.1:n.763+88C=
XM_005259913.1:c.763+88C= XP_005259970.1:n.763+88C=
XM_005259913.2:c.763+88C= XP_005259970.1:n.763+88C=
XM_024451518.1:c.-256+88C= XP_024307286.1:n.-256+88C=
NM_000528.4:c.763+88C= MANE Select NP_000519.2:n.763+88C=
NM_001173498.2:c.763+88C= NP_001166969.1:n.763+88C=