Canonical Allele Identifier: CA993650344

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024151481
• gnomAD v3: 19-12663313-T-A
• gnomAD v4: 19-12663313-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663313T>A , CM000681.2:g.12663313T>A	GRCh38
NC_000019.9:g.12774127T>A , CM000681.1:g.12774127T>A	GRCh37
NC_000019.8:g.12635127T>A	NCBI36
NG_008318.1:g.8465A>T
NG_015814.1:g.1510T>A

Transcript Alleles

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