Canonical Allele Identifier: CA2323498569

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023712316

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647309_12647310dup , CM000681.2:g.12647309_12647310dup	GRCh38
NC_000019.9:g.12758123_12758124dup , CM000681.1:g.12758123_12758124dup	GRCh37
NC_000019.8:g.12619123_12619124dup	NCBI36
NG_008318.1:g.24469_24470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2847_2848dup MANE Select	ENSP00000395473.2:p.Arg950ProfsTer?
ENST00000221363.8:c.2844_2845dup	ENSP00000221363.4:p.Arg949ProfsTer?
ENST00000456935.6:c.2847_2848dup	ENSP00000395473.2:p.Arg950ProfsTer?
ENST00000466794.5:n.3437_3438dup
ENST00000469423.1:n.276_277dup
ENST00000493218.5:n.258_259dup
ENST00000597692.1:c.406_407dup
NM_000528.3:c.2847_2848dup	NP_000519.2:p.Arg950ProfsTer?
NM_001173498.1:c.2844_2845dup	NP_001166969.1:p.Arg949ProfsTer?
XM_005259913.1:c.2850_2851dup	XP_005259970.1:p.Arg951ProfsTer?
XM_011528017.1:c.1746_1747dup	XP_011526319.1:p.Arg583ProfsTer?
XM_005259913.2:c.2850_2851dup	XP_005259970.1:p.Arg951ProfsTer?
XM_024451518.1:c.1746_1747dup	XP_024307286.1:p.Arg583ProfsTer?
NM_000528.4:c.2847_2848dup MANE Select	NP_000519.2:p.Arg950ProfsTer?
NM_001173498.2:c.2844_2845dup	NP_001166969.1:p.Arg949ProfsTer?