Canonical Allele Identifier: CA2323502817

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655737A= , CM000681.2:g.12655737A=	GRCh38
NC_000019.9:g.12766551A= , CM000681.1:g.12766551A=	GRCh37
NC_000019.8:g.12627551A=	NCBI36
NG_008318.1:g.16041T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1787T= MANE Select	ENSP00000395473.2:p.Ile596=
ENST00000221363.8:c.1784T=	ENSP00000221363.4:p.Ile595=
ENST00000433513.5:n.393T=
ENST00000456935.6:c.1787T=	ENSP00000395473.2:p.Ile596=
ENST00000466794.5:n.2377T=
ENST00000593686.1:c.380T=
ENST00000595880.5:n.384T=
ENST00000596591.1:c.151T=
NM_000528.3:c.1787T=	NP_000519.2:p.Ile596=
NM_001173498.1:c.1784T=	NP_001166969.1:p.Ile595=
XM_005259913.1:c.1790T=	XP_005259970.1:p.Ile597=
XM_011528017.1:c.686T=	XP_011526319.1:p.Ile229=
XM_005259913.2:c.1790T=	XP_005259970.1:p.Ile597=
XM_024451518.1:c.686T=	XP_024307286.1:p.Ile229=
NM_000528.4:c.1787T= MANE Select	NP_000519.2:p.Ile596=
NM_001173498.2:c.1784T=	NP_001166969.1:p.Ile595=