Canonical Allele Identifier: CA2323507691

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665395C= , CM000681.2:g.12665395C=	GRCh38
NC_000019.9:g.12776209C= , CM000681.1:g.12776209C=	GRCh37
NC_000019.8:g.12637209C=	NCBI36
NG_008318.1:g.6383G=
NG_015814.1:g.3592C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.393G= MANE Select	ENSP00000395473.2:p.Gln131=
ENST00000221363.8:c.393G=	ENSP00000221363.4:p.Gln131=
ENST00000456935.6:c.393G=	ENSP00000395473.2:p.Gln131=
ENST00000466794.5:n.375G=
ENST00000486847.2:c.290G=	ENSP00000470174.1:p.Arg97=
ENST00000596512.5:n.331G=
ENST00000597961.1:c.384G=	ENSP00000472710.1:p.Gln128=
ENST00000598876.1:c.420G=	ENSP00000470533.1:p.Gln140=
ENST00000600281.1:n.434G=
NM_000528.3:c.393G=	NP_000519.2:p.Gln131=
NM_001173498.1:c.393G=	NP_001166969.1:p.Gln131=
XM_005259913.1:c.393G=	XP_005259970.1:p.Gln131=
XM_005259913.2:c.393G=	XP_005259970.1:p.Gln131=
XM_024451518.1:c.-626G=	XP_024307286.1:n.-626G=
NM_000528.4:c.393G= MANE Select	NP_000519.2:p.Gln131=
NM_001173498.2:c.393G=	NP_001166969.1:p.Gln131=