Canonical Allele Identifier: CA2323507842

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665711A= , CM000681.2:g.12665711A=	GRCh38
NC_000019.9:g.12776525A= , CM000681.1:g.12776525A=	GRCh37
NC_000019.8:g.12637525A=	NCBI36
NG_008318.1:g.6067T=
NG_015814.1:g.3908A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.254T= MANE Select	ENSP00000395473.2:p.Phe85=
ENST00000221363.8:c.254T=	ENSP00000221363.4:p.Phe85=
ENST00000456935.6:c.254T=	ENSP00000395473.2:p.Phe85=
ENST00000466794.5:n.236T=
ENST00000486847.2:c.160-186T=	ENSP00000470174.1:n.160-186T=
ENST00000596512.5:n.201-186T=
ENST00000597961.1:c.245T=	ENSP00000472710.1:p.Phe82=
ENST00000598876.1:c.281T=	ENSP00000470533.1:p.Phe94=
ENST00000600281.1:n.295T=
NM_000528.3:c.254T=	NP_000519.2:p.Phe85=
NM_001173498.1:c.254T=	NP_001166969.1:p.Phe85=
XM_005259913.1:c.254T=	XP_005259970.1:p.Phe85=
XM_005259913.2:c.254T=	XP_005259970.1:p.Phe85=
XM_024451518.1:c.-765T=	XP_024307286.1:n.-765T=
NM_000528.4:c.254T= MANE Select	NP_000519.2:p.Phe85=
NM_001173498.2:c.254T=	NP_001166969.1:p.Phe85=