Canonical Allele Identifier: CA2323498645
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647453A= , CM000681.2:g.12647453A= GRCh38
NC_000019.9:g.12758267A= , CM000681.1:g.12758267A= GRCh37
NC_000019.8:g.12619267A= NCBI36
NG_008318.1:g.24325T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2810T= MANE Select ENSP00000395473.2:p.Leu937=
ENST00000221363.8:c.2807T= ENSP00000221363.4:p.Leu936=
ENST00000456935.6:c.2810T= ENSP00000395473.2:p.Leu937=
ENST00000466794.5:n.3400T=
ENST00000469423.1:n.132T=
ENST00000493218.5:n.221T=
ENST00000597692.1:c.369T=
NM_000528.3:c.2810T= NP_000519.2:p.Leu937=
NM_001173498.1:c.2807T= NP_001166969.1:p.Leu936=
XM_005259913.1:c.2813T= XP_005259970.1:p.Leu938=
XM_011528017.1:c.1709T= XP_011526319.1:p.Leu570=
XM_005259913.2:c.2813T= XP_005259970.1:p.Leu938=
XM_024451518.1:c.1709T= XP_024307286.1:p.Leu570=
NM_000528.4:c.2810T= MANE Select NP_000519.2:p.Leu937=
NM_001173498.2:c.2807T= NP_001166969.1:p.Leu936=