Canonical Allele Identifier: CA2323498641
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647448A= , CM000681.2:g.12647448A= GRCh38
NC_000019.9:g.12758262A= , CM000681.1:g.12758262A= GRCh37
NC_000019.8:g.12619262A= NCBI36
NG_008318.1:g.24330T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2815T= MANE Select ENSP00000395473.2:p.Leu939=
ENST00000221363.8:c.2812T= ENSP00000221363.4:p.Leu938=
ENST00000456935.6:c.2815T= ENSP00000395473.2:p.Leu939=
ENST00000466794.5:n.3405T=
ENST00000469423.1:n.137T=
ENST00000493218.5:n.226T=
ENST00000597692.1:c.374T=
NM_000528.3:c.2815T= NP_000519.2:p.Leu939=
NM_001173498.1:c.2812T= NP_001166969.1:p.Leu938=
XM_005259913.1:c.2818T= XP_005259970.1:p.Leu940=
XM_011528017.1:c.1714T= XP_011526319.1:p.Leu572=
XM_005259913.2:c.2818T= XP_005259970.1:p.Leu940=
XM_024451518.1:c.1714T= XP_024307286.1:p.Leu572=
NM_000528.4:c.2815T= MANE Select NP_000519.2:p.Leu939=
NM_001173498.2:c.2812T= NP_001166969.1:p.Leu938=