Canonical Allele Identifier: CA2323507727

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665476G= , CM000681.2:g.12665476G=	GRCh38
NC_000019.9:g.12776290G= , CM000681.1:g.12776290G=	GRCh37
NC_000019.8:g.12637290G=	NCBI36
NG_008318.1:g.6302C=
NG_015814.1:g.3673G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.312C= MANE Select	ENSP00000395473.2:p.Val104=
ENST00000221363.8:c.312C=	ENSP00000221363.4:p.Val104=
ENST00000456935.6:c.312C=	ENSP00000395473.2:p.Val104=
ENST00000466794.5:n.294C=
ENST00000486847.2:c.209C=	ENSP00000470174.1:p.Ser70=
ENST00000596512.5:n.250C=
ENST00000597961.1:c.303C=	ENSP00000472710.1:p.Val101=
ENST00000598876.1:c.339C=	ENSP00000470533.1:p.Val113=
ENST00000600281.1:n.353C=
NM_000528.3:c.312C=	NP_000519.2:p.Val104=
NM_001173498.1:c.312C=	NP_001166969.1:p.Val104=
XM_005259913.1:c.312C=	XP_005259970.1:p.Val104=
XM_005259913.2:c.312C=	XP_005259970.1:p.Val104=
XM_024451518.1:c.-707C=	XP_024307286.1:n.-707C=
NM_000528.4:c.312C= MANE Select	NP_000519.2:p.Val104=
NM_001173498.2:c.312C=	NP_001166969.1:p.Val104=