Canonical Allele Identifier: CA2323504316

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658319G= , CM000681.2:g.12658319G=	GRCh38
NC_000019.9:g.12769133G= , CM000681.1:g.12769133G=	GRCh37
NC_000019.8:g.12630133G=	NCBI36
NG_008318.1:g.13459C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1135C= MANE Select	ENSP00000395473.2:p.Pro379=
ENST00000221363.8:c.1132C=	ENSP00000221363.4:p.Pro378=
ENST00000456935.6:c.1135C=	ENSP00000395473.2:p.Pro379=
ENST00000465830.1:n.299C=
ENST00000466794.5:n.1034C=
ENST00000495617.1:n.280+412C=
NM_000528.3:c.1135C=	NP_000519.2:p.Pro379=
NM_001173498.1:c.1132C=	NP_001166969.1:p.Pro378=
XM_005259913.1:c.1138C=	XP_005259970.1:p.Pro380=
XM_011528017.1:c.34C=	XP_011526319.1:p.Pro12=
XM_005259913.2:c.1138C=	XP_005259970.1:p.Pro380=
XM_024451518.1:c.34C=	XP_024307286.1:p.Pro12=
NM_000528.4:c.1135C= MANE Select	NP_000519.2:p.Pro379=
NM_001173498.2:c.1132C=	NP_001166969.1:p.Pro378=