Canonical Allele Identifier: CA2323507845

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665718G= , CM000681.2:g.12665718G=	GRCh38
NC_000019.9:g.12776532G= , CM000681.1:g.12776532G=	GRCh37
NC_000019.8:g.12637532G=	NCBI36
NG_008318.1:g.6060C=
NG_015814.1:g.3915G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.247C= MANE Select	ENSP00000395473.2:p.Gln83=
ENST00000221363.8:c.247C=	ENSP00000221363.4:p.Gln83=
ENST00000456935.6:c.247C=	ENSP00000395473.2:p.Gln83=
ENST00000466794.5:n.229C=
ENST00000486847.2:c.160-193C=	ENSP00000470174.1:n.160-193C=
ENST00000596512.5:n.201-193C=
ENST00000597961.1:c.238C=	ENSP00000472710.1:p.Gln80=
ENST00000598876.1:c.274C=	ENSP00000470533.1:p.Gln92=
ENST00000600281.1:n.288C=
NM_000528.3:c.247C=	NP_000519.2:p.Gln83=
NM_001173498.1:c.247C=	NP_001166969.1:p.Gln83=
XM_005259913.1:c.247C=	XP_005259970.1:p.Gln83=
XM_005259913.2:c.247C=	XP_005259970.1:p.Gln83=
XM_024451518.1:c.-772C=	XP_024307286.1:n.-772C=
NM_000528.4:c.247C= MANE Select	NP_000519.2:p.Gln83=
NM_001173498.2:c.247C=	NP_001166969.1:p.Gln83=