Canonical Allele Identifier: CA2323498669
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647509C= , CM000681.2:g.12647509C= GRCh38
NC_000019.9:g.12758323C= , CM000681.1:g.12758323C= GRCh37
NC_000019.8:g.12619323C= NCBI36
NG_008318.1:g.24269G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2754G= MANE Select ENSP00000395473.2:p.Glu918=
ENST00000221363.8:c.2751G= ENSP00000221363.4:p.Glu917=
ENST00000456935.6:c.2754G= ENSP00000395473.2:p.Glu918=
ENST00000466794.5:n.3344G=
ENST00000469423.1:n.76G=
ENST00000493218.5:n.165G=
ENST00000597692.1:c.313G=
NM_000528.3:c.2754G= NP_000519.2:p.Glu918=
NM_001173498.1:c.2751G= NP_001166969.1:p.Glu917=
XM_005259913.1:c.2757G= XP_005259970.1:p.Glu919=
XM_011528017.1:c.1653G= XP_011526319.1:p.Glu551=
XM_005259913.2:c.2757G= XP_005259970.1:p.Glu919=
XM_024451518.1:c.1653G= XP_024307286.1:p.Glu551=
NM_000528.4:c.2754G= MANE Select NP_000519.2:p.Glu918=
NM_001173498.2:c.2751G= NP_001166969.1:p.Glu917=