Canonical Allele Identifier: CA2323506876

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663712G= , CM000681.2:g.12663712G=	GRCh38
NC_000019.9:g.12774526G= , CM000681.1:g.12774526G=	GRCh37
NC_000019.8:g.12635526G=	NCBI36
NG_008318.1:g.8066C=
NG_015814.1:g.1909G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.754C= MANE Select	ENSP00000395473.2:p.Leu252=
ENST00000221363.8:c.754C=	ENSP00000221363.4:p.Leu252=
ENST00000456935.6:c.754C=	ENSP00000395473.2:p.Leu252=
ENST00000466794.5:n.736C=
ENST00000486847.2:c.457C=	ENSP00000470174.1:p.Leu153=
NM_000528.3:c.754C=	NP_000519.2:p.Leu252=
NM_001173498.1:c.754C=	NP_001166969.1:p.Leu252=
XM_005259913.1:c.754C=	XP_005259970.1:p.Leu252=
XM_005259913.2:c.754C=	XP_005259970.1:p.Leu252=
XM_024451518.1:c.-265C=	XP_024307286.1:n.-265C=
NM_000528.4:c.754C= MANE Select	NP_000519.2:p.Leu252=
NM_001173498.2:c.754C=	NP_001166969.1:p.Leu252=