Canonical Allele Identifier: CA2323502818
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655738T= , CM000681.2:g.12655738T= GRCh38
NC_000019.9:g.12766552T= , CM000681.1:g.12766552T= GRCh37
NC_000019.8:g.12627552T= NCBI36
NG_008318.1:g.16040A=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1786A= MANE Select ENSP00000395473.2:p.Ile596=
ENST00000221363.8:c.1783A= ENSP00000221363.4:p.Ile595=
ENST00000433513.5:n.392A=
ENST00000456935.6:c.1786A= ENSP00000395473.2:p.Ile596=
ENST00000466794.5:n.2376A=
ENST00000593686.1:c.379A=
ENST00000595880.5:n.383A=
ENST00000596591.1:c.150A=
NM_000528.3:c.1786A= NP_000519.2:p.Ile596=
NM_001173498.1:c.1783A= NP_001166969.1:p.Ile595=
XM_005259913.1:c.1789A= XP_005259970.1:p.Ile597=
XM_011528017.1:c.685A= XP_011526319.1:p.Ile229=
XM_005259913.2:c.1789A= XP_005259970.1:p.Ile597=
XM_024451518.1:c.685A= XP_024307286.1:p.Ile229=
NM_000528.4:c.1786A= MANE Select NP_000519.2:p.Ile596=
NM_001173498.2:c.1783A= NP_001166969.1:p.Ile595=