Canonical Allele Identifier: CA2323504278
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658233G= , CM000681.2:g.12658233G= GRCh38
NC_000019.9:g.12769047G= , CM000681.1:g.12769047G= GRCh37
NC_000019.8:g.12630047G= NCBI36
NG_008318.1:g.13545C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1221C= MANE Select ENSP00000395473.2:p.Asn407=
ENST00000221363.8:c.1218C= ENSP00000221363.4:p.Asn406=
ENST00000456935.6:c.1221C= ENSP00000395473.2:p.Asn407=
ENST00000465830.1:n.385C=
ENST00000466794.5:n.1120C=
ENST00000495617.1:n.281-473C=
NM_000528.3:c.1221C= NP_000519.2:p.Asn407=
NM_001173498.1:c.1218C= NP_001166969.1:p.Asn406=
XM_005259913.1:c.1224C= XP_005259970.1:p.Asn408=
XM_011528017.1:c.120C= XP_011526319.1:p.Asn40=
XM_005259913.2:c.1224C= XP_005259970.1:p.Asn408=
XM_024451518.1:c.120C= XP_024307286.1:p.Asn40=
NM_000528.4:c.1221C= MANE Select NP_000519.2:p.Asn407=
NM_001173498.2:c.1218C= NP_001166969.1:p.Asn406=