Canonical Allele Identifier: CA2695198140

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676426
• ClinVar RCV Id: RCV003470039

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663801_12663804del , CM000681.2:g.12663801_12663804del	GRCh38
NC_000019.9:g.12774615_12774618del , CM000681.1:g.12774615_12774618del	GRCh37
NC_000019.8:g.12635615_12635618del	NCBI36
NG_008318.1:g.7976_7979del
NG_015814.1:g.1998_2001del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.664_667del MANE Select	ENSP00000395473.2:p.Asp222IlefsTer23
ENST00000221363.8:c.664_667del	ENSP00000221363.4:p.Asp222IlefsTer23
ENST00000456935.6:c.664_667del	ENSP00000395473.2:p.Asp222IlefsTer23
ENST00000466794.5:n.646_649del
ENST00000486847.2:c.367_370del	ENSP00000470174.1:p.Asp123IlefsTer23
NM_000528.3:c.664_667del	NP_000519.2:p.Asp222IlefsTer23
NM_001173498.1:c.664_667del	NP_001166969.1:p.Asp222IlefsTer23
XM_005259913.1:c.664_667del	XP_005259970.1:p.Asp222IlefsTer23
XM_005259913.2:c.664_667del	XP_005259970.1:p.Asp222IlefsTer23
XM_024451518.1:c.-355_-352del	XP_024307286.1:n.-355_-352del
NM_000528.4:c.664_667del MANE Select	NP_000519.2:p.Asp222IlefsTer23
NM_001173498.2:c.664_667del	NP_001166969.1:p.Asp222IlefsTer23