Canonical Allele Identifier: CA2323498711

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647589G= , CM000681.2:g.12647589G=	GRCh38
NC_000019.9:g.12758403G= , CM000681.1:g.12758403G=	GRCh37
NC_000019.8:g.12619403G=	NCBI36
NG_008318.1:g.24189C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2674C= MANE Select	ENSP00000395473.2:p.Leu892=
ENST00000221363.8:c.2671C=	ENSP00000221363.4:p.Leu891=
ENST00000456935.6:c.2674C=	ENSP00000395473.2:p.Leu892=
ENST00000466794.5:n.3264C=
ENST00000493218.5:n.85C=
ENST00000597692.1:c.233C=
NM_000528.3:c.2674C=	NP_000519.2:p.Leu892=
NM_001173498.1:c.2671C=	NP_001166969.1:p.Leu891=
XM_005259913.1:c.2677C=	XP_005259970.1:p.Leu893=
XM_011528017.1:c.1573C=	XP_011526319.1:p.Leu525=
XM_005259913.2:c.2677C=	XP_005259970.1:p.Leu893=
XM_024451518.1:c.1573C=	XP_024307286.1:p.Leu525=
NM_000528.4:c.2674C= MANE Select	NP_000519.2:p.Leu892=
NM_001173498.2:c.2671C=	NP_001166969.1:p.Leu891=