Canonical Allele Identifier: CA2323503483

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657027G= , CM000681.2:g.12657027G=	GRCh38
NC_000019.9:g.12767841G= , CM000681.1:g.12767841G=	GRCh37
NC_000019.8:g.12628841G=	NCBI36
NG_008318.1:g.14751C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1449C= MANE Select	ENSP00000395473.2:p.Leu483=
ENST00000221363.8:c.1446C=	ENSP00000221363.4:p.Leu482=
ENST00000433513.5:n.55C=
ENST00000456935.6:c.1449C=	ENSP00000395473.2:p.Leu483=
ENST00000466794.5:n.1348C=
ENST00000495617.1:n.625C=
ENST00000593686.1:c.59C=
ENST00000595880.5:n.46C=
NM_000528.3:c.1449C=	NP_000519.2:p.Leu483=
NM_001173498.1:c.1446C=	NP_001166969.1:p.Leu482=
XM_005259913.1:c.1452C=	XP_005259970.1:p.Leu484=
XM_011528017.1:c.348C=	XP_011526319.1:p.Leu116=
XM_005259913.2:c.1452C=	XP_005259970.1:p.Leu484=
XM_024451518.1:c.348C=	XP_024307286.1:p.Leu116=
NM_000528.4:c.1449C= MANE Select	NP_000519.2:p.Leu483=
NM_001173498.2:c.1446C=	NP_001166969.1:p.Leu482=