Canonical Allele Identifier: CA2323507693

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665399T= , CM000681.2:g.12665399T=	GRCh38
NC_000019.9:g.12776213T= , CM000681.1:g.12776213T=	GRCh37
NC_000019.8:g.12637213T=	NCBI36
NG_008318.1:g.6379A=
NG_015814.1:g.3596T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.389A= MANE Select	ENSP00000395473.2:p.Gln130=
ENST00000221363.8:c.389A=	ENSP00000221363.4:p.Gln130=
ENST00000456935.6:c.389A=	ENSP00000395473.2:p.Gln130=
ENST00000466794.5:n.371A=
ENST00000486847.2:c.286A=	ENSP00000470174.1:p.Ser96=
ENST00000596512.5:n.327A=
ENST00000597961.1:c.380A=	ENSP00000472710.1:p.Gln127=
ENST00000598876.1:c.416A=	ENSP00000470533.1:p.Gln139=
ENST00000600281.1:n.430A=
NM_000528.3:c.389A=	NP_000519.2:p.Gln130=
NM_001173498.1:c.389A=	NP_001166969.1:p.Gln130=
XM_005259913.1:c.389A=	XP_005259970.1:p.Gln130=
XM_005259913.2:c.389A=	XP_005259970.1:p.Gln130=
XM_024451518.1:c.-630A=	XP_024307286.1:n.-630A=
NM_000528.4:c.389A= MANE Select	NP_000519.2:p.Gln130=
NM_001173498.2:c.389A=	NP_001166969.1:p.Gln130=