Canonical Allele Identifier: CA2323500128

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650212A= , CM000681.2:g.12650212A=	GRCh38
NC_000019.9:g.12761026A= , CM000681.1:g.12761026A=	GRCh37
NC_000019.8:g.12622026A=	NCBI36
NG_008318.1:g.21566T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2057T= MANE Select	ENSP00000395473.2:p.Val686=
ENST00000221363.8:c.2054T=	ENSP00000221363.4:p.Val685=
ENST00000456935.6:c.2057T=	ENSP00000395473.2:p.Val686=
ENST00000466794.5:n.2647T=
NM_000528.3:c.2057T=	NP_000519.2:p.Val686=
NM_001173498.1:c.2054T=	NP_001166969.1:p.Val685=
XM_005259913.1:c.2060T=	XP_005259970.1:p.Val687=
XM_011528017.1:c.956T=	XP_011526319.1:p.Val319=
XM_005259913.2:c.2060T=	XP_005259970.1:p.Val687=
XM_024451518.1:c.956T=	XP_024307286.1:p.Val319=
NM_000528.4:c.2057T= MANE Select	NP_000519.2:p.Val686=
NM_001173498.2:c.2054T=	NP_001166969.1:p.Val685=