Canonical Allele Identifier: CA2323504197
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658093G= , CM000681.2:g.12658093G= GRCh38
NC_000019.9:g.12768907G= , CM000681.1:g.12768907G= GRCh37
NC_000019.8:g.12629907G= NCBI36
NG_008318.1:g.13685C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1279C= MANE Select ENSP00000395473.2:p.Pro427=
ENST00000221363.8:c.1276C= ENSP00000221363.4:p.Pro426=
ENST00000456935.6:c.1279C= ENSP00000395473.2:p.Pro427=
ENST00000465830.1:n.443C=
ENST00000466794.5:n.1178C=
ENST00000495617.1:n.281-333C=
NM_000528.3:c.1279C= NP_000519.2:p.Pro427=
NM_001173498.1:c.1276C= NP_001166969.1:p.Pro426=
XM_005259913.1:c.1282C= XP_005259970.1:p.Pro428=
XM_011528017.1:c.178C= XP_011526319.1:p.Pro60=
XM_005259913.2:c.1282C= XP_005259970.1:p.Pro428=
XM_024451518.1:c.178C= XP_024307286.1:p.Pro60=
NM_000528.4:c.1279C= MANE Select NP_000519.2:p.Pro427=
NM_001173498.2:c.1276C= NP_001166969.1:p.Pro426=