Canonical Allele Identifier: CA2323503487
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657034G= , CM000681.2:g.12657034G= GRCh38
NC_000019.9:g.12767848G= , CM000681.1:g.12767848G= GRCh37
NC_000019.8:g.12628848G= NCBI36
NG_008318.1:g.14744C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1442C= MANE Select ENSP00000395473.2:p.Ala481=
ENST00000221363.8:c.1439C= ENSP00000221363.4:p.Ala480=
ENST00000433513.5:n.48C=
ENST00000456935.6:c.1442C= ENSP00000395473.2:p.Ala481=
ENST00000466794.5:n.1341C=
ENST00000495617.1:n.618C=
ENST00000593686.1:c.52C=
ENST00000595880.5:n.39C=
NM_000528.3:c.1442C= NP_000519.2:p.Ala481=
NM_001173498.1:c.1439C= NP_001166969.1:p.Ala480=
XM_005259913.1:c.1445C= XP_005259970.1:p.Ala482=
XM_011528017.1:c.341C= XP_011526319.1:p.Ala114=
XM_005259913.2:c.1445C= XP_005259970.1:p.Ala482=
XM_024451518.1:c.341C= XP_024307286.1:p.Ala114=
NM_000528.4:c.1442C= MANE Select NP_000519.2:p.Ala481=
NM_001173498.2:c.1439C= NP_001166969.1:p.Ala480=