Canonical Allele Identifier: CA2323507484
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12664976T= , CM000681.2:g.12664976T= GRCh38
NC_000019.9:g.12775790T= , CM000681.1:g.12775790T= GRCh37
NC_000019.8:g.12636790T= NCBI36
NG_008318.1:g.6802A=
NG_015814.1:g.3173T=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.446A= MANE Select ENSP00000395473.2:p.Glu149=
ENST00000221363.8:c.446A= ENSP00000221363.4:p.Glu149=
ENST00000456935.6:c.446A= ENSP00000395473.2:p.Glu149=
ENST00000466794.5:n.428A=
ENST00000486847.2:c.333+376A= ENSP00000470174.1:n.333+376A=
ENST00000596512.5:n.384A=
ENST00000597961.1:c.437A= ENSP00000472710.1:p.Glu146=
ENST00000598876.1:c.473A= ENSP00000470533.1:p.Glu158=
NM_000528.3:c.446A= NP_000519.2:p.Glu149=
NM_001173498.1:c.446A= NP_001166969.1:p.Glu149=
XM_005259913.1:c.446A= XP_005259970.1:p.Glu149=
XM_005259913.2:c.446A= XP_005259970.1:p.Glu149=
XM_024451518.1:c.-573A= XP_024307286.1:n.-573A=
NM_000528.4:c.446A= MANE Select NP_000519.2:p.Glu149=
NM_001173498.2:c.446A= NP_001166969.1:p.Glu149=