Canonical Allele Identifier: CA2323507439

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664877G= , CM000681.2:g.12664877G=	GRCh38
NC_000019.9:g.12775691G= , CM000681.1:g.12775691G=	GRCh37
NC_000019.8:g.12636691G=	NCBI36
NG_008318.1:g.6901C=
NG_015814.1:g.3074G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.545C= MANE Select	ENSP00000395473.2:p.Thr182=
ENST00000221363.8:c.545C=	ENSP00000221363.4:p.Thr182=
ENST00000456935.6:c.545C=	ENSP00000395473.2:p.Thr182=
ENST00000466794.5:n.527C=
ENST00000486847.2:c.333+475C=	ENSP00000470174.1:n.333+475C=
ENST00000596512.5:n.483C=
ENST00000597961.1:c.536C=	ENSP00000472710.1:p.Thr179=
NM_000528.3:c.545C=	NP_000519.2:p.Thr182=
NM_001173498.1:c.545C=	NP_001166969.1:p.Thr182=
XM_005259913.1:c.545C=	XP_005259970.1:p.Thr182=
XM_005259913.2:c.545C=	XP_005259970.1:p.Thr182=
XM_024451518.1:c.-474C=	XP_024307286.1:n.-474C=
NM_000528.4:c.545C= MANE Select	NP_000519.2:p.Thr182=
NM_001173498.2:c.545C=	NP_001166969.1:p.Thr182=