Canonical Allele Identifier: CA2323507435

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664868T= , CM000681.2:g.12664868T=	GRCh38
NC_000019.9:g.12775682T= , CM000681.1:g.12775682T=	GRCh37
NC_000019.8:g.12636682T=	NCBI36
NG_008318.1:g.6910A=
NG_015814.1:g.3065T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.554A= MANE Select	ENSP00000395473.2:p.Asn185=
ENST00000221363.8:c.554A=	ENSP00000221363.4:p.Asn185=
ENST00000456935.6:c.554A=	ENSP00000395473.2:p.Asn185=
ENST00000466794.5:n.536A=
ENST00000486847.2:c.333+484A=	ENSP00000470174.1:n.333+484A=
ENST00000596512.5:n.492A=
ENST00000597961.1:c.545A=	ENSP00000472710.1:p.Asn182=
NM_000528.3:c.554A=	NP_000519.2:p.Asn185=
NM_001173498.1:c.554A=	NP_001166969.1:p.Asn185=
XM_005259913.1:c.554A=	XP_005259970.1:p.Asn185=
XM_005259913.2:c.554A=	XP_005259970.1:p.Asn185=
XM_024451518.1:c.-465A=	XP_024307286.1:n.-465A=
NM_000528.4:c.554A= MANE Select	NP_000519.2:p.Asn185=
NM_001173498.2:c.554A=	NP_001166969.1:p.Asn185=