Canonical Allele Identifier: CA2323507405

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664813C= , CM000681.2:g.12664813C=	GRCh38
NC_000019.9:g.12775627C= , CM000681.1:g.12775627C=	GRCh37
NC_000019.8:g.12636627C=	NCBI36
NG_008318.1:g.6965G=
NG_015814.1:g.3010C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.609G= MANE Select	ENSP00000395473.2:p.Glu203=
ENST00000221363.8:c.609G=	ENSP00000221363.4:p.Glu203=
ENST00000456935.6:c.609G=	ENSP00000395473.2:p.Glu203=
ENST00000466794.5:n.591G=
ENST00000486847.2:c.333+539G=	ENSP00000470174.1:n.333+539G=
ENST00000596512.5:n.547G=
NM_000528.3:c.609G=	NP_000519.2:p.Glu203=
NM_001173498.1:c.609G=	NP_001166969.1:p.Glu203=
XM_005259913.1:c.609G=	XP_005259970.1:p.Glu203=
XM_005259913.2:c.609G=	XP_005259970.1:p.Glu203=
XM_024451518.1:c.-410G=	XP_024307286.1:n.-410G=
NM_000528.4:c.609G= MANE Select	NP_000519.2:p.Glu203=
NM_001173498.2:c.609G=	NP_001166969.1:p.Glu203=