Canonical Allele Identifier: CA2323500119

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650181C= , CM000681.2:g.12650181C=	GRCh38
NC_000019.9:g.12760995C= , CM000681.1:g.12760995C=	GRCh37
NC_000019.8:g.12621995C=	NCBI36
NG_008318.1:g.21597G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2088G= MANE Select	ENSP00000395473.2:p.Trp696=
ENST00000221363.8:c.2085G=	ENSP00000221363.4:p.Trp695=
ENST00000456935.6:c.2088G=	ENSP00000395473.2:p.Trp696=
ENST00000466794.5:n.2678G=
NM_000528.3:c.2088G=	NP_000519.2:p.Trp696=
NM_001173498.1:c.2085G=	NP_001166969.1:p.Trp695=
XM_005259913.1:c.2091G=	XP_005259970.1:p.Trp697=
XM_011528017.1:c.987G=	XP_011526319.1:p.Trp329=
XM_005259913.2:c.2091G=	XP_005259970.1:p.Trp697=
XM_024451518.1:c.987G=	XP_024307286.1:p.Trp329=
NM_000528.4:c.2088G= MANE Select	NP_000519.2:p.Trp696=
NM_001173498.2:c.2085G=	NP_001166969.1:p.Trp695=