Canonical Allele Identifier: CA2323507849

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665726G= , CM000681.2:g.12665726G=	GRCh38
NC_000019.9:g.12776540G= , CM000681.1:g.12776540G=	GRCh37
NC_000019.8:g.12637540G=	NCBI36
NG_008318.1:g.6052C=
NG_015814.1:g.3923G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.239C= MANE Select	ENSP00000395473.2:p.Thr80=
ENST00000221363.8:c.239C=	ENSP00000221363.4:p.Thr80=
ENST00000456935.6:c.239C=	ENSP00000395473.2:p.Thr80=
ENST00000466794.5:n.221C=
ENST00000486847.2:c.160-201C=	ENSP00000470174.1:n.160-201C=
ENST00000596512.5:n.201-201C=
ENST00000597961.1:c.230C=	ENSP00000472710.1:p.Thr77=
ENST00000598876.1:c.266C=	ENSP00000470533.1:p.Thr89=
ENST00000600281.1:n.280C=
NM_000528.3:c.239C=	NP_000519.2:p.Thr80=
NM_001173498.1:c.239C=	NP_001166969.1:p.Thr80=
XM_005259913.1:c.239C=	XP_005259970.1:p.Thr80=
XM_005259913.2:c.239C=	XP_005259970.1:p.Thr80=
XM_024451518.1:c.-780C=	XP_024307286.1:n.-780C=
NM_000528.4:c.239C= MANE Select	NP_000519.2:p.Thr80=
NM_001173498.2:c.239C=	NP_001166969.1:p.Thr80=