Canonical Allele Identifier: CA2323504318

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658323G= , CM000681.2:g.12658323G=	GRCh38
NC_000019.9:g.12769137G= , CM000681.1:g.12769137G=	GRCh37
NC_000019.8:g.12630137G=	NCBI36
NG_008318.1:g.13455C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1131C= MANE Select	ENSP00000395473.2:p.Phe377=
ENST00000221363.8:c.1128C=	ENSP00000221363.4:p.Phe376=
ENST00000456935.6:c.1131C=	ENSP00000395473.2:p.Phe377=
ENST00000465830.1:n.295C=
ENST00000466794.5:n.1030C=
ENST00000495617.1:n.280+408C=
NM_000528.3:c.1131C=	NP_000519.2:p.Phe377=
NM_001173498.1:c.1128C=	NP_001166969.1:p.Phe376=
XM_005259913.1:c.1134C=	XP_005259970.1:p.Phe378=
XM_011528017.1:c.30C=	XP_011526319.1:p.Phe10=
XM_005259913.2:c.1134C=	XP_005259970.1:p.Phe378=
XM_024451518.1:c.30C=	XP_024307286.1:p.Phe10=
NM_000528.4:c.1131C= MANE Select	NP_000519.2:p.Phe377=
NM_001173498.2:c.1128C=	NP_001166969.1:p.Phe376=