Canonical Allele Identifier: CA2323504399

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658476G= , CM000681.2:g.12658476G=	GRCh38
NC_000019.9:g.12769290G= , CM000681.1:g.12769290G=	GRCh37
NC_000019.8:g.12630290G=	NCBI36
NG_008318.1:g.13302C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1061C= MANE Select	ENSP00000395473.2:p.Ser354=
ENST00000221363.8:c.1058C=	ENSP00000221363.4:p.Ser353=
ENST00000456935.6:c.1061C=	ENSP00000395473.2:p.Ser354=
ENST00000465830.1:n.142C=
ENST00000466794.5:n.1009-132C=
ENST00000495617.1:n.280+255C=
NM_000528.3:c.1061C=	NP_000519.2:p.Ser354=
NM_001173498.1:c.1058C=	NP_001166969.1:p.Ser353=
XM_005259913.1:c.1064C=	XP_005259970.1:p.Ser355=
XM_011528017.1:c.9-132C=	XP_011526319.1:n.9-132C=
XM_005259913.2:c.1064C=	XP_005259970.1:p.Ser355=
XM_024451518.1:c.9-132C=	XP_024307286.1:n.9-132C=
NM_000528.4:c.1061C= MANE Select	NP_000519.2:p.Ser354=
NM_001173498.2:c.1058C=	NP_001166969.1:p.Ser353=