Canonical Allele Identifier: CA2323506878
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663715C= , CM000681.2:g.12663715C= GRCh38
NC_000019.9:g.12774529C= , CM000681.1:g.12774529C= GRCh37
NC_000019.8:g.12635529C= NCBI36
NG_008318.1:g.8063G=
NG_015814.1:g.1912C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.751G= MANE Select ENSP00000395473.2:p.Asp251=
ENST00000221363.8:c.751G= ENSP00000221363.4:p.Asp251=
ENST00000456935.6:c.751G= ENSP00000395473.2:p.Asp251=
ENST00000466794.5:n.733G=
ENST00000486847.2:c.454G= ENSP00000470174.1:p.Asp152=
NM_000528.3:c.751G= NP_000519.2:p.Asp251=
NM_001173498.1:c.751G= NP_001166969.1:p.Asp251=
XM_005259913.1:c.751G= XP_005259970.1:p.Asp251=
XM_005259913.2:c.751G= XP_005259970.1:p.Asp251=
XM_024451518.1:c.-268G= XP_024307286.1:n.-268G=
NM_000528.4:c.751G= MANE Select NP_000519.2:p.Asp251=
NM_001173498.2:c.751G= NP_001166969.1:p.Asp251=