Canonical Allele Identifier: CA2323503466
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12656984T= , CM000681.2:g.12656984T= GRCh38
NC_000019.9:g.12767798T= , CM000681.1:g.12767798T= GRCh37
NC_000019.8:g.12628798T= NCBI36
NG_008318.1:g.14794A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1492A= MANE Select ENSP00000395473.2:p.Ile498=
ENST00000221363.8:c.1489A= ENSP00000221363.4:p.Ile497=
ENST00000433513.5:n.98A=
ENST00000456935.6:c.1492A= ENSP00000395473.2:p.Ile498=
ENST00000466794.5:n.1391A=
ENST00000495617.1:n.668A=
ENST00000593686.1:c.102A=
ENST00000595880.5:n.89A=
NM_000528.3:c.1492A= NP_000519.2:p.Ile498=
NM_001173498.1:c.1489A= NP_001166969.1:p.Ile497=
XM_005259913.1:c.1495A= XP_005259970.1:p.Ile499=
XM_011528017.1:c.391A= XP_011526319.1:p.Ile131=
XM_005259913.2:c.1495A= XP_005259970.1:p.Ile499=
XM_024451518.1:c.391A= XP_024307286.1:p.Ile131=
NM_000528.4:c.1492A= MANE Select NP_000519.2:p.Ile498=
NM_001173498.2:c.1489A= NP_001166969.1:p.Ile497=