Canonical Allele Identifier: CA2323498576

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647325G= , CM000681.2:g.12647325G=	GRCh38
NC_000019.9:g.12758139G= , CM000681.1:g.12758139G=	GRCh37
NC_000019.8:g.12619139G=	NCBI36
NG_008318.1:g.24453C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2831C= MANE Select	ENSP00000395473.2:p.Ser944=
ENST00000221363.8:c.2828C=	ENSP00000221363.4:p.Ser943=
ENST00000456935.6:c.2831C=	ENSP00000395473.2:p.Ser944=
ENST00000466794.5:n.3421C=
ENST00000469423.1:n.260C=
ENST00000493218.5:n.242C=
ENST00000597692.1:c.390C=
NM_000528.3:c.2831C=	NP_000519.2:p.Ser944=
NM_001173498.1:c.2828C=	NP_001166969.1:p.Ser943=
XM_005259913.1:c.2834C=	XP_005259970.1:p.Ser945=
XM_011528017.1:c.1730C=	XP_011526319.1:p.Ser577=
XM_005259913.2:c.2834C=	XP_005259970.1:p.Ser945=
XM_024451518.1:c.1730C=	XP_024307286.1:p.Ser577=
NM_000528.4:c.2831C= MANE Select	NP_000519.2:p.Ser944=
NM_001173498.2:c.2828C=	NP_001166969.1:p.Ser943=