Canonical Allele Identifier: CA2323498695
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647560G= , CM000681.2:g.12647560G= GRCh38
NC_000019.9:g.12758374G= , CM000681.1:g.12758374G= GRCh37
NC_000019.8:g.12619374G= NCBI36
NG_008318.1:g.24218C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2703C= MANE Select ENSP00000395473.2:p.His901=
ENST00000221363.8:c.2700C= ENSP00000221363.4:p.His900=
ENST00000456935.6:c.2703C= ENSP00000395473.2:p.His901=
ENST00000466794.5:n.3293C=
ENST00000469423.1:n.25C=
ENST00000493218.5:n.114C=
ENST00000597692.1:c.262C=
NM_000528.3:c.2703C= NP_000519.2:p.His901=
NM_001173498.1:c.2700C= NP_001166969.1:p.His900=
XM_005259913.1:c.2706C= XP_005259970.1:p.His902=
XM_011528017.1:c.1602C= XP_011526319.1:p.His534=
XM_005259913.2:c.2706C= XP_005259970.1:p.His902=
XM_024451518.1:c.1602C= XP_024307286.1:p.His534=
NM_000528.4:c.2703C= MANE Select NP_000519.2:p.His901=
NM_001173498.2:c.2700C= NP_001166969.1:p.His900=