Canonical Allele Identifier: CA2323503492

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657040G= , CM000681.2:g.12657040G=	GRCh38
NC_000019.9:g.12767854G= , CM000681.1:g.12767854G=	GRCh37
NC_000019.8:g.12628854G=	NCBI36
NG_008318.1:g.14738C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1436C= MANE Select	ENSP00000395473.2:p.Ala479=
ENST00000221363.8:c.1433C=	ENSP00000221363.4:p.Ala478=
ENST00000433513.5:n.42C=
ENST00000456935.6:c.1436C=	ENSP00000395473.2:p.Ala479=
ENST00000466794.5:n.1335C=
ENST00000495617.1:n.612C=
ENST00000593686.1:c.46C=
ENST00000595880.5:n.33C=
NM_000528.3:c.1436C=	NP_000519.2:p.Ala479=
NM_001173498.1:c.1433C=	NP_001166969.1:p.Ala478=
XM_005259913.1:c.1439C=	XP_005259970.1:p.Ala480=
XM_011528017.1:c.335C=	XP_011526319.1:p.Ala112=
XM_005259913.2:c.1439C=	XP_005259970.1:p.Ala480=
XM_024451518.1:c.335C=	XP_024307286.1:p.Ala112=
NM_000528.4:c.1436C= MANE Select	NP_000519.2:p.Ala479=
NM_001173498.2:c.1433C=	NP_001166969.1:p.Ala478=