Canonical Allele Identifier: CA2323503497

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657050G= , CM000681.2:g.12657050G=	GRCh38
NC_000019.9:g.12767864G= , CM000681.1:g.12767864G=	GRCh37
NC_000019.8:g.12628864G=	NCBI36
NG_008318.1:g.14728C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1426C= MANE Select	ENSP00000395473.2:p.Leu476=
ENST00000221363.8:c.1423C=	ENSP00000221363.4:p.Leu475=
ENST00000433513.5:n.32C=
ENST00000456935.6:c.1426C=	ENSP00000395473.2:p.Leu476=
ENST00000466794.5:n.1325C=
ENST00000495617.1:n.602C=
ENST00000593686.1:c.36C=
ENST00000595880.5:n.23C=
NM_000528.3:c.1426C=	NP_000519.2:p.Leu476=
NM_001173498.1:c.1423C=	NP_001166969.1:p.Leu475=
XM_005259913.1:c.1429C=	XP_005259970.1:p.Leu477=
XM_011528017.1:c.325C=	XP_011526319.1:p.Leu109=
XM_005259913.2:c.1429C=	XP_005259970.1:p.Leu477=
XM_024451518.1:c.325C=	XP_024307286.1:p.Leu109=
NM_000528.4:c.1426C= MANE Select	NP_000519.2:p.Leu476=
NM_001173498.2:c.1423C=	NP_001166969.1:p.Leu475=