Canonical Allele Identifier: CA2323507672

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665358G= , CM000681.2:g.12665358G=	GRCh38
NC_000019.9:g.12776172G= , CM000681.1:g.12776172G=	GRCh37
NC_000019.8:g.12637172G=	NCBI36
NG_008318.1:g.6420C=
NG_015814.1:g.3555G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.430C= MANE Select	ENSP00000395473.2:p.Arg144=
ENST00000221363.8:c.430C=	ENSP00000221363.4:p.Arg144=
ENST00000456935.6:c.430C=	ENSP00000395473.2:p.Arg144=
ENST00000466794.5:n.412C=
ENST00000486847.2:c.327C=	ENSP00000470174.1:p.Cys109=
ENST00000596512.5:n.368C=
ENST00000597961.1:c.421C=	ENSP00000472710.1:p.Arg141=
ENST00000598876.1:c.457C=	ENSP00000470533.1:p.Arg153=
ENST00000600281.1:n.471C=
NM_000528.3:c.430C=	NP_000519.2:p.Arg144=
NM_001173498.1:c.430C=	NP_001166969.1:p.Arg144=
XM_005259913.1:c.430C=	XP_005259970.1:p.Arg144=
XM_005259913.2:c.430C=	XP_005259970.1:p.Arg144=
XM_024451518.1:c.-589C=	XP_024307286.1:n.-589C=
NM_000528.4:c.430C= MANE Select	NP_000519.2:p.Arg144=
NM_001173498.2:c.430C=	NP_001166969.1:p.Arg144=