Canonical Allele Identifier: CA2323506904

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663781G= , CM000681.2:g.12663781G=	GRCh38
NC_000019.9:g.12774595G= , CM000681.1:g.12774595G=	GRCh37
NC_000019.8:g.12635595G=	NCBI36
NG_008318.1:g.7997C=
NG_015814.1:g.1978G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.685C= MANE Select	ENSP00000395473.2:p.Arg229=
ENST00000221363.8:c.685C=	ENSP00000221363.4:p.Arg229=
ENST00000456935.6:c.685C=	ENSP00000395473.2:p.Arg229=
ENST00000466794.5:n.667C=
ENST00000486847.2:c.388C=	ENSP00000470174.1:p.Arg130=
NM_000528.3:c.685C=	NP_000519.2:p.Arg229=
NM_001173498.1:c.685C=	NP_001166969.1:p.Arg229=
XM_005259913.1:c.685C=	XP_005259970.1:p.Arg229=
XM_005259913.2:c.685C=	XP_005259970.1:p.Arg229=
XM_024451518.1:c.-334C=	XP_024307286.1:n.-334C=
NM_000528.4:c.685C= MANE Select	NP_000519.2:p.Arg229=
NM_001173498.2:c.685C=	NP_001166969.1:p.Arg229=