Canonical Allele Identifier: CA2580096678

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2032159
• ClinVar RCV Id: RCV002899022

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649331G>A , CM000681.2:g.12649331G>A	GRCh38
NC_000019.9:g.12760145G>A , CM000681.1:g.12760145G>A	GRCh37
NC_000019.8:g.12621145G>A	NCBI36
NG_008318.1:g.22447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2355+10C>T MANE Select	ENSP00000395473.2:n.2355+10C>T
ENST00000221363.8:c.2352+10C>T	ENSP00000221363.4:n.2352+10C>T
ENST00000456935.6:c.2355+10C>T	ENSP00000395473.2:n.2355+10C>T
ENST00000466794.5:n.2945+10C>T
NM_000528.3:c.2355+10C>T	NP_000519.2:n.2355+10C>T
NM_001173498.1:c.2352+10C>T	NP_001166969.1:n.2352+10C>T
XM_005259913.1:c.2358+10C>T	XP_005259970.1:n.2358+10C>T
XM_011528017.1:c.1254+10C>T	XP_011526319.1:n.1254+10C>T
XM_005259913.2:c.2358+10C>T	XP_005259970.1:n.2358+10C>T
XM_024451518.1:c.1254+10C>T	XP_024307286.1:n.1254+10C>T
NM_000528.4:c.2355+10C>T MANE Select	NP_000519.2:n.2355+10C>T
NM_001173498.2:c.2352+10C>T	NP_001166969.1:n.2352+10C>T