Canonical Allele Identifier: CA2323499559
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649158C= , CM000681.2:g.12649158C= GRCh38
NC_000019.9:g.12759972C= , CM000681.1:g.12759972C= GRCh37
NC_000019.8:g.12620972C= NCBI36
NG_008318.1:g.22620G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2414G= MANE Select ENSP00000395473.2:p.Arg805=
ENST00000221363.8:c.2411G= ENSP00000221363.4:p.Arg804=
ENST00000456935.6:c.2414G= ENSP00000395473.2:p.Arg805=
ENST00000466794.5:n.3004G=
NM_000528.3:c.2414G= NP_000519.2:p.Arg805=
NM_001173498.1:c.2411G= NP_001166969.1:p.Arg804=
XM_005259913.1:c.2417G= XP_005259970.1:p.Arg806=
XM_011528017.1:c.1313G= XP_011526319.1:p.Arg438=
XM_005259913.2:c.2417G= XP_005259970.1:p.Arg806=
XM_024451518.1:c.1313G= XP_024307286.1:p.Arg438=
NM_000528.4:c.2414G= MANE Select NP_000519.2:p.Arg805=
NM_001173498.2:c.2411G= NP_001166969.1:p.Arg804=