Canonical Allele Identifier: CA1139666292

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 946816
• ClinVar RCV Id: RCV001217756
• dbSNP Id: rs2023710111

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647256_12647271del , CM000681.2:g.12647256_12647271del	GRCh38
NC_000019.9:g.12758070_12758085del , CM000681.1:g.12758070_12758085del	GRCh37
NC_000019.8:g.12619070_12619085del	NCBI36
NG_008318.1:g.24509_24524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2887_2902del MANE Select	ENSP00000395473.2:p.Glu963SerfsTer?
ENST00000221363.8:c.2884_2899del	ENSP00000221363.4:p.Glu962SerfsTer?
ENST00000456935.6:c.2887_2902del	ENSP00000395473.2:p.Glu963SerfsTer?
ENST00000466794.5:n.3477_3492del
ENST00000469423.1:n.316_331del
ENST00000493218.5:n.298_313del
ENST00000597692.1:c.446_461del
NM_000528.3:c.2887_2902del	NP_000519.2:p.Glu963SerfsTer?
NM_001173498.1:c.2884_2899del	NP_001166969.1:p.Glu962SerfsTer?
XM_005259913.1:c.2890_2905del	XP_005259970.1:p.Glu964SerfsTer?
XM_011528017.1:c.1786_1801del	XP_011526319.1:p.Glu596SerfsTer?
XM_005259913.2:c.2890_2905del	XP_005259970.1:p.Glu964SerfsTer?
XM_024451518.1:c.1786_1801del	XP_024307286.1:p.Glu596SerfsTer?
NM_000528.4:c.2887_2902del MANE Select	NP_000519.2:p.Glu963SerfsTer?
NM_001173498.2:c.2884_2899del	NP_001166969.1:p.Glu962SerfsTer?