Canonical Allele Identifier: CA2323504319
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658328C= , CM000681.2:g.12658328C= GRCh38
NC_000019.9:g.12769142C= , CM000681.1:g.12769142C= GRCh37
NC_000019.8:g.12630142C= NCBI36
NG_008318.1:g.13450G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1126G= MANE Select ENSP00000395473.2:p.Asp376=
ENST00000221363.8:c.1123G= ENSP00000221363.4:p.Asp375=
ENST00000456935.6:c.1126G= ENSP00000395473.2:p.Asp376=
ENST00000465830.1:n.290G=
ENST00000466794.5:n.1025G=
ENST00000495617.1:n.280+403G=
NM_000528.3:c.1126G= NP_000519.2:p.Asp376=
NM_001173498.1:c.1123G= NP_001166969.1:p.Asp375=
XM_005259913.1:c.1129G= XP_005259970.1:p.Asp377=
XM_011528017.1:c.25G= XP_011526319.1:p.Asp9=
XM_005259913.2:c.1129G= XP_005259970.1:p.Asp377=
XM_024451518.1:c.25G= XP_024307286.1:p.Asp9=
NM_000528.4:c.1126G= MANE Select NP_000519.2:p.Asp376=
NM_001173498.2:c.1123G= NP_001166969.1:p.Asp375=