Canonical Allele Identifier: CA2323502822
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655742C= , CM000681.2:g.12655742C= GRCh38
NC_000019.9:g.12766556C= , CM000681.1:g.12766556C= GRCh37
NC_000019.8:g.12627556C= NCBI36
NG_008318.1:g.16036G=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1782G= MANE Select ENSP00000395473.2:p.Gln594=
ENST00000221363.8:c.1779G= ENSP00000221363.4:p.Gln593=
ENST00000433513.5:n.388G=
ENST00000456935.6:c.1782G= ENSP00000395473.2:p.Gln594=
ENST00000466794.5:n.2372G=
ENST00000593686.1:c.375G=
ENST00000595880.5:n.379G=
ENST00000596591.1:c.146G=
NM_000528.3:c.1782G= NP_000519.2:p.Gln594=
NM_001173498.1:c.1779G= NP_001166969.1:p.Gln593=
XM_005259913.1:c.1785G= XP_005259970.1:p.Gln595=
XM_011528017.1:c.681G= XP_011526319.1:p.Gln227=
XM_005259913.2:c.1785G= XP_005259970.1:p.Gln595=
XM_024451518.1:c.681G= XP_024307286.1:p.Gln227=
NM_000528.4:c.1782G= MANE Select NP_000519.2:p.Gln594=
NM_001173498.2:c.1779G= NP_001166969.1:p.Gln593=