Canonical Allele Identifier: CA2323507867
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665769G= , CM000681.2:g.12665769G= GRCh38
NC_000019.9:g.12776583G= , CM000681.1:g.12776583G= GRCh37
NC_000019.8:g.12637583G= NCBI36
NG_008318.1:g.6009C=
NG_015814.1:g.3966G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.196C= MANE Select ENSP00000395473.2:p.His66=
ENST00000221363.8:c.196C= ENSP00000221363.4:p.His66=
ENST00000456935.6:c.196C= ENSP00000395473.2:p.His66=
ENST00000466794.5:n.178C=
ENST00000486847.2:c.160-244C= ENSP00000470174.1:n.160-244C=
ENST00000596512.5:n.201-244C=
ENST00000597961.1:c.187C= ENSP00000472710.1:p.His63=
ENST00000598876.1:c.223C= ENSP00000470533.1:p.His75=
ENST00000600281.1:n.237C=
NM_000528.3:c.196C= NP_000519.2:p.His66=
NM_001173498.1:c.196C= NP_001166969.1:p.His66=
XM_005259913.1:c.196C= XP_005259970.1:p.His66=
XM_005259913.2:c.196C= XP_005259970.1:p.His66=
XM_024451518.1:c.-823C= XP_024307286.1:n.-823C=
NM_000528.4:c.196C= MANE Select NP_000519.2:p.His66=
NM_001173498.2:c.196C= NP_001166969.1:p.His66=