Canonical Allele Identifier: CA2840968739

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655741dup , CM000681.2:g.12655741dup	GRCh38
NC_000019.9:g.12766555dup , CM000681.1:g.12766555dup	GRCh37
NC_000019.8:g.12627555dup	NCBI36
NG_008318.1:g.16039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1785dup MANE Select	ENSP00000395473.2:p.Ile596HisfsTer15
ENST00000221363.8:c.1782dup	ENSP00000221363.4:p.Ile595HisfsTer15
ENST00000433513.5:n.391dup
ENST00000456935.6:c.1785dup	ENSP00000395473.2:p.Ile596HisfsTer15
ENST00000466794.5:n.2375dup
ENST00000593686.1:c.378dup
ENST00000595880.5:n.382dup
ENST00000596591.1:c.149dup
NM_000528.3:c.1785dup	NP_000519.2:p.Ile596HisfsTer15
NM_001173498.1:c.1782dup	NP_001166969.1:p.Ile595HisfsTer15
XM_005259913.1:c.1788dup	XP_005259970.1:p.Ile597HisfsTer15
XM_011528017.1:c.684dup	XP_011526319.1:p.Ile229HisfsTer15
XM_005259913.2:c.1788dup	XP_005259970.1:p.Ile597HisfsTer15
XM_024451518.1:c.684dup	XP_024307286.1:p.Ile229HisfsTer15
NM_000528.4:c.1785dup MANE Select	NP_000519.2:p.Ile596HisfsTer15
NM_001173498.2:c.1782dup	NP_001166969.1:p.Ile595HisfsTer15