Canonical Allele Identifier: CA2323507717

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665450G= , CM000681.2:g.12665450G=	GRCh38
NC_000019.9:g.12776264G= , CM000681.1:g.12776264G=	GRCh37
NC_000019.8:g.12637264G=	NCBI36
NG_008318.1:g.6328C=
NG_015814.1:g.3647G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.338C= MANE Select	ENSP00000395473.2:p.Thr113=
ENST00000221363.8:c.338C=	ENSP00000221363.4:p.Thr113=
ENST00000456935.6:c.338C=	ENSP00000395473.2:p.Thr113=
ENST00000466794.5:n.320C=
ENST00000486847.2:c.235C=	ENSP00000470174.1:p.Pro79=
ENST00000596512.5:n.276C=
ENST00000597961.1:c.329C=	ENSP00000472710.1:p.Thr110=
ENST00000598876.1:c.365C=	ENSP00000470533.1:p.Thr122=
ENST00000600281.1:n.379C=
NM_000528.3:c.338C=	NP_000519.2:p.Thr113=
NM_001173498.1:c.338C=	NP_001166969.1:p.Thr113=
XM_005259913.1:c.338C=	XP_005259970.1:p.Thr113=
XM_005259913.2:c.338C=	XP_005259970.1:p.Thr113=
XM_024451518.1:c.-681C=	XP_024307286.1:n.-681C=
NM_000528.4:c.338C= MANE Select	NP_000519.2:p.Thr113=
NM_001173498.2:c.338C=	NP_001166969.1:p.Thr113=