Canonical Allele Identifier: CA2323498673
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647516C= , CM000681.2:g.12647516C= GRCh38
NC_000019.9:g.12758330C= , CM000681.1:g.12758330C= GRCh37
NC_000019.8:g.12619330C= NCBI36
NG_008318.1:g.24262G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2747G= MANE Select ENSP00000395473.2:p.Arg916=
ENST00000221363.8:c.2744G= ENSP00000221363.4:p.Arg915=
ENST00000456935.6:c.2747G= ENSP00000395473.2:p.Arg916=
ENST00000466794.5:n.3337G=
ENST00000469423.1:n.69G=
ENST00000493218.5:n.158G=
ENST00000597692.1:c.306G=
NM_000528.3:c.2747G= NP_000519.2:p.Arg916=
NM_001173498.1:c.2744G= NP_001166969.1:p.Arg915=
XM_005259913.1:c.2750G= XP_005259970.1:p.Arg917=
XM_011528017.1:c.1646G= XP_011526319.1:p.Arg549=
XM_005259913.2:c.2750G= XP_005259970.1:p.Arg917=
XM_024451518.1:c.1646G= XP_024307286.1:p.Arg549=
NM_000528.4:c.2747G= MANE Select NP_000519.2:p.Arg916=
NM_001173498.2:c.2744G= NP_001166969.1:p.Arg915=