Canonical Allele Identifier: CA2323507743
Community Standard Title: NM_000528.4(MAN2B1):c.277C= (p.Gln93=)
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665511G= , CM000681.2:g.12665511G= GRCh38
NC_000019.9:g.12776325G= , CM000681.1:g.12776325G= GRCh37
NC_000019.8:g.12637325G= NCBI36
NG_008318.1:g.6267C=
NG_015814.1:g.3708G=

Transcript Alleles

HGVS Amino-acid Change
NM_000528.4:c.277C= MANE Select NP_000519.2:p.Gln93=
ENST00000456935.7:c.277C= MANE Select ENSP00000395473.2:p.Gln93=
NM_000528.3:c.277C= NP_000519.2:p.Gln93=
NM_001173498.1:c.277C= NP_001166969.1:p.Gln93=
NM_001173498.2:c.277C= NP_001166969.1:p.Gln93=
ENST00000221363.8:c.277C= ENSP00000221363.4:p.Gln93=
ENST00000456935.6:c.277C= ENSP00000395473.2:p.Gln93=
ENST00000466794.5:n.259C=
ENST00000486847.2:c.174C= ENSP00000470174.1:p.Ser58=
ENST00000596512.5:n.215C=
ENST00000597961.1:c.268C= ENSP00000472710.1:p.Gln90=
ENST00000598876.1:c.304C= ENSP00000470533.1:p.Gln102=
ENST00000600281.1:n.318C=
XM_005259913.1:c.277C= XP_005259970.1:p.Gln93=
XM_005259913.2:c.277C= XP_005259970.1:p.Gln93=
XM_024451518.1:c.-742C= XP_024307286.1:n.-742C=