Canonical Allele Identifier: CA2582722026

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663304-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663304A>T , CM000681.2:g.12663304A>T	GRCh38
NC_000019.9:g.12774118A>T , CM000681.1:g.12774118A>T	GRCh37
NC_000019.8:g.12635118A>T	NCBI36
NG_008318.1:g.8474T>A
NG_015814.1:g.1501A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.909+13T>A MANE Select	ENSP00000395473.2:n.909+13T>A
ENST00000221363.8:c.909+13T>A	ENSP00000221363.4:n.909+13T>A
ENST00000456935.6:c.909+13T>A	ENSP00000395473.2:n.909+13T>A
ENST00000462144.1:n.102+13T>A
ENST00000466794.5:n.891+13T>A
NM_000528.3:c.909+13T>A	NP_000519.2:n.909+13T>A
NM_001173498.1:c.909+13T>A	NP_001166969.1:n.909+13T>A
XM_005259913.1:c.909+13T>A	XP_005259970.1:n.909+13T>A
XM_011528017.1:c.-110+13T>A	XP_011526319.1:n.-110+13T>A
XM_005259913.2:c.909+13T>A	XP_005259970.1:n.909+13T>A
XM_024451518.1:c.-110+13T>A	XP_024307286.1:n.-110+13T>A
NM_000528.4:c.909+13T>A MANE Select	NP_000519.2:n.909+13T>A
NM_001173498.2:c.909+13T>A	NP_001166969.1:n.909+13T>A