Canonical Allele Identifier: CA2323498573

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647312G= , CM000681.2:g.12647312G=	GRCh38
NC_000019.9:g.12758126G= , CM000681.1:g.12758126G=	GRCh37
NC_000019.8:g.12619126G=	NCBI36
NG_008318.1:g.24466C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2844C= MANE Select	ENSP00000395473.2:p.Ile948=
ENST00000221363.8:c.2841C=	ENSP00000221363.4:p.Ile947=
ENST00000456935.6:c.2844C=	ENSP00000395473.2:p.Ile948=
ENST00000466794.5:n.3434C=
ENST00000469423.1:n.273C=
ENST00000493218.5:n.255C=
ENST00000597692.1:c.403C=
NM_000528.3:c.2844C=	NP_000519.2:p.Ile948=
NM_001173498.1:c.2841C=	NP_001166969.1:p.Ile947=
XM_005259913.1:c.2847C=	XP_005259970.1:p.Ile949=
XM_011528017.1:c.1743C=	XP_011526319.1:p.Ile581=
XM_005259913.2:c.2847C=	XP_005259970.1:p.Ile949=
XM_024451518.1:c.1743C=	XP_024307286.1:p.Ile581=
NM_000528.4:c.2844C= MANE Select	NP_000519.2:p.Ile948=
NM_001173498.2:c.2841C=	NP_001166969.1:p.Ile947=