Canonical Allele Identifier: CA2323499575

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649192G= , CM000681.2:g.12649192G=	GRCh38
NC_000019.9:g.12760006G= , CM000681.1:g.12760006G=	GRCh37
NC_000019.8:g.12621006G=	NCBI36
NG_008318.1:g.22586C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2380C= MANE Select	ENSP00000395473.2:p.Leu794=
ENST00000221363.8:c.2377C=	ENSP00000221363.4:p.Leu793=
ENST00000456935.6:c.2380C=	ENSP00000395473.2:p.Leu794=
ENST00000466794.5:n.2970C=
NM_000528.3:c.2380C=	NP_000519.2:p.Leu794=
NM_001173498.1:c.2377C=	NP_001166969.1:p.Leu793=
XM_005259913.1:c.2383C=	XP_005259970.1:p.Leu795=
XM_011528017.1:c.1279C=	XP_011526319.1:p.Leu427=
XM_005259913.2:c.2383C=	XP_005259970.1:p.Leu795=
XM_024451518.1:c.1279C=	XP_024307286.1:p.Leu427=
NM_000528.4:c.2380C= MANE Select	NP_000519.2:p.Leu794=
NM_001173498.2:c.2377C=	NP_001166969.1:p.Leu793=