Canonical Allele Identifier: CA2323503465
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12656982G= , CM000681.2:g.12656982G= GRCh38
NC_000019.9:g.12767796G= , CM000681.1:g.12767796G= GRCh37
NC_000019.8:g.12628796G= NCBI36
NG_008318.1:g.14796C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1494C= MANE Select ENSP00000395473.2:p.Ile498=
ENST00000221363.8:c.1491C= ENSP00000221363.4:p.Ile497=
ENST00000433513.5:n.100C=
ENST00000456935.6:c.1494C= ENSP00000395473.2:p.Ile498=
ENST00000466794.5:n.1393C=
ENST00000495617.1:n.670C=
ENST00000593686.1:c.104C=
ENST00000595880.5:n.91C=
NM_000528.3:c.1494C= NP_000519.2:p.Ile498=
NM_001173498.1:c.1491C= NP_001166969.1:p.Ile497=
XM_005259913.1:c.1497C= XP_005259970.1:p.Ile499=
XM_011528017.1:c.393C= XP_011526319.1:p.Ile131=
XM_005259913.2:c.1497C= XP_005259970.1:p.Ile499=
XM_024451518.1:c.393C= XP_024307286.1:p.Ile131=
NM_000528.4:c.1494C= MANE Select NP_000519.2:p.Ile498=
NM_001173498.2:c.1491C= NP_001166969.1:p.Ile497=