Canonical Allele Identifier: CA2323507592
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665185G= , CM000681.2:g.12665185G= GRCh38
NC_000019.9:g.12775999G= , CM000681.1:g.12775999G= GRCh37
NC_000019.8:g.12636999G= NCBI36
NG_008318.1:g.6593C=
NG_015814.1:g.3382G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.436+167C= MANE Select ENSP00000395473.2:n.436+167C=
ENST00000221363.8:c.436+167C= ENSP00000221363.4:n.436+167C=
ENST00000456935.6:c.436+167C= ENSP00000395473.2:n.436+167C=
ENST00000466794.5:n.418+167C=
ENST00000486847.2:c.333+167C= ENSP00000470174.1:n.333+167C=
ENST00000596512.5:n.374+167C=
ENST00000597961.1:c.427+167C= ENSP00000472710.1:n.427+167C=
ENST00000598876.1:c.463+167C= ENSP00000470533.1:n.463+167C=
NM_000528.3:c.436+167C= NP_000519.2:n.436+167C=
NM_001173498.1:c.436+167C= NP_001166969.1:n.436+167C=
XM_005259913.1:c.436+167C= XP_005259970.1:n.436+167C=
XM_005259913.2:c.436+167C= XP_005259970.1:n.436+167C=
XM_024451518.1:c.-583+167C= XP_024307286.1:n.-583+167C=
NM_000528.4:c.436+167C= MANE Select NP_000519.2:n.436+167C=
NM_001173498.2:c.436+167C= NP_001166969.1:n.436+167C=