Canonical Allele Identifier: CA9225840

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646663C>T , CM000681.2:g.12646663C>T	GRCh38
NC_000019.9:g.12757477C>T , CM000681.1:g.12757477C>T	GRCh37
NC_000019.8:g.12618477C>T	NCBI36
NG_008318.1:g.25115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2993G>A MANE Select	NP_000519.2:p.Arg998His
ENST00000456935.7:c.2993G>A MANE Select	ENSP00000395473.2:p.Arg998His
NM_000528.3:c.2993G>A	NP_000519.2:p.Arg998His
NM_001173498.1:c.2990G>A	NP_001166969.1:p.Arg997His
NM_001173498.2:c.2990G>A	NP_001166969.1:p.Arg997His
ENST00000221363.8:c.2990G>A	ENSP00000221363.4:p.Arg997His
ENST00000456935.6:c.2993G>A	ENSP00000395473.2:p.Arg998His
ENST00000466794.5:n.3583G>A
ENST00000469423.1:n.422G>A
ENST00000480851.5:n.173G>A
ENST00000493218.5:n.404G>A
ENST00000597692.1:c.552G>A
XM_005259913.1:c.2996G>A	XP_005259970.1:p.Arg999His
XM_005259913.2:c.2996G>A	XP_005259970.1:p.Arg999His
XM_011528017.1:c.1892G>A	XP_011526319.1:p.Arg631His
XM_024451518.1:c.1892G>A	XP_024307286.1:p.Arg631His