Canonical Allele Identifier: CA2323503769
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657448C= , CM000681.2:g.12657448C= GRCh38
NC_000019.9:g.12768262C= , CM000681.1:g.12768262C= GRCh37
NC_000019.8:g.12629262C= NCBI36
NG_008318.1:g.14330G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1417G= MANE Select ENSP00000395473.2:p.Glu473=
ENST00000221363.8:c.1414G= ENSP00000221363.4:p.Glu472=
ENST00000456935.6:c.1417G= ENSP00000395473.2:p.Glu473=
ENST00000466794.5:n.1316G=
ENST00000495617.1:n.593G=
ENST00000593686.1:c.27G=
NM_000528.3:c.1417G= NP_000519.2:p.Glu473=
NM_001173498.1:c.1414G= NP_001166969.1:p.Glu472=
XM_005259913.1:c.1420G= XP_005259970.1:p.Glu474=
XM_011528017.1:c.316G= XP_011526319.1:p.Glu106=
XM_005259913.2:c.1420G= XP_005259970.1:p.Glu474=
XM_024451518.1:c.316G= XP_024307286.1:p.Glu106=
NM_000528.4:c.1417G= MANE Select NP_000519.2:p.Glu473=
NM_001173498.2:c.1414G= NP_001166969.1:p.Glu472=