Canonical Allele Identifier: CA2323502846

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655805C= , CM000681.2:g.12655805C=	GRCh38
NC_000019.9:g.12766619C= , CM000681.1:g.12766619C=	GRCh37
NC_000019.8:g.12627619C=	NCBI36
NG_008318.1:g.15973G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1719G= MANE Select	ENSP00000395473.2:p.Leu573=
ENST00000221363.8:c.1716G=	ENSP00000221363.4:p.Leu572=
ENST00000433513.5:n.325G=
ENST00000456935.6:c.1719G=	ENSP00000395473.2:p.Leu573=
ENST00000466794.5:n.2309G=
ENST00000593686.1:c.312G=
ENST00000595880.5:n.316G=
ENST00000596591.1:c.83G=
NM_000528.3:c.1719G=	NP_000519.2:p.Leu573=
NM_001173498.1:c.1716G=	NP_001166969.1:p.Leu572=
XM_005259913.1:c.1722G=	XP_005259970.1:p.Leu574=
XM_011528017.1:c.618G=	XP_011526319.1:p.Leu206=
XM_005259913.2:c.1722G=	XP_005259970.1:p.Leu574=
XM_024451518.1:c.618G=	XP_024307286.1:p.Leu206=
NM_000528.4:c.1719G= MANE Select	NP_000519.2:p.Leu573=
NM_001173498.2:c.1716G=	NP_001166969.1:p.Leu572=