Canonical Allele Identifier: CA2323503494
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657042G= , CM000681.2:g.12657042G= GRCh38
NC_000019.9:g.12767856G= , CM000681.1:g.12767856G= GRCh37
NC_000019.8:g.12628856G= NCBI36
NG_008318.1:g.14736C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1434C= MANE Select ENSP00000395473.2:p.Asn478=
ENST00000221363.8:c.1431C= ENSP00000221363.4:p.Asn477=
ENST00000433513.5:n.40C=
ENST00000456935.6:c.1434C= ENSP00000395473.2:p.Asn478=
ENST00000466794.5:n.1333C=
ENST00000495617.1:n.610C=
ENST00000593686.1:c.44C=
ENST00000595880.5:n.31C=
NM_000528.3:c.1434C= NP_000519.2:p.Asn478=
NM_001173498.1:c.1431C= NP_001166969.1:p.Asn477=
XM_005259913.1:c.1437C= XP_005259970.1:p.Asn479=
XM_011528017.1:c.333C= XP_011526319.1:p.Asn111=
XM_005259913.2:c.1437C= XP_005259970.1:p.Asn479=
XM_024451518.1:c.333C= XP_024307286.1:p.Asn111=
NM_000528.4:c.1434C= MANE Select NP_000519.2:p.Asn478=
NM_001173498.2:c.1431C= NP_001166969.1:p.Asn477=