Canonical Allele Identifier: CA2697556344

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2739867
• ClinVar RCV Id: RCV003497484

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647262_12647275del , CM000681.2:g.12647262_12647275del	GRCh38
NC_000019.9:g.12758076_12758089del , CM000681.1:g.12758076_12758089del	GRCh37
NC_000019.8:g.12619076_12619089del	NCBI36
NG_008318.1:g.24507_24520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2885_2898del MANE Select	ENSP00000395473.2:p.Arg962GlnfsTer?
ENST00000221363.8:c.2882_2895del	ENSP00000221363.4:p.Arg961GlnfsTer?
ENST00000456935.6:c.2885_2898del	ENSP00000395473.2:p.Arg962GlnfsTer?
ENST00000466794.5:n.3475_3488del
ENST00000469423.1:n.314_327del
ENST00000493218.5:n.296_309del
ENST00000597692.1:c.444_457del
NM_000528.3:c.2885_2898del	NP_000519.2:p.Arg962GlnfsTer?
NM_001173498.1:c.2882_2895del	NP_001166969.1:p.Arg961GlnfsTer?
XM_005259913.1:c.2888_2901del	XP_005259970.1:p.Arg963GlnfsTer?
XM_011528017.1:c.1784_1797del	XP_011526319.1:p.Arg595GlnfsTer?
XM_005259913.2:c.2888_2901del	XP_005259970.1:p.Arg963GlnfsTer?
XM_024451518.1:c.1784_1797del	XP_024307286.1:p.Arg595GlnfsTer?
NM_000528.4:c.2885_2898del MANE Select	NP_000519.2:p.Arg962GlnfsTer?
NM_001173498.2:c.2882_2895del	NP_001166969.1:p.Arg961GlnfsTer?