Canonical Allele Identifier: CA2323504307

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658298G= , CM000681.2:g.12658298G=	GRCh38
NC_000019.9:g.12769112G= , CM000681.1:g.12769112G=	GRCh37
NC_000019.8:g.12630112G=	NCBI36
NG_008318.1:g.13480C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1156C= MANE Select	ENSP00000395473.2:p.Gln386=
ENST00000221363.8:c.1153C=	ENSP00000221363.4:p.Gln385=
ENST00000456935.6:c.1156C=	ENSP00000395473.2:p.Gln386=
ENST00000465830.1:n.320C=
ENST00000466794.5:n.1055C=
ENST00000495617.1:n.280+433C=
NM_000528.3:c.1156C=	NP_000519.2:p.Gln386=
NM_001173498.1:c.1153C=	NP_001166969.1:p.Gln385=
XM_005259913.1:c.1159C=	XP_005259970.1:p.Gln387=
XM_011528017.1:c.55C=	XP_011526319.1:p.Gln19=
XM_005259913.2:c.1159C=	XP_005259970.1:p.Gln387=
XM_024451518.1:c.55C=	XP_024307286.1:p.Gln19=
NM_000528.4:c.1156C= MANE Select	NP_000519.2:p.Gln386=
NM_001173498.2:c.1153C=	NP_001166969.1:p.Gln385=