Canonical Allele Identifier: CA916083684

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 857238
• ClinVar RCV Id: RCV001062875
• dbSNP Id: rs2023782686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649426del , CM000681.2:g.12649426del	GRCh38
NC_000019.9:g.12760240del , CM000681.1:g.12760240del	GRCh37
NC_000019.8:g.12621240del	NCBI36
NG_008318.1:g.22354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2272del MANE Select	ENSP00000395473.2:p.Asp758IlefsTer8
ENST00000221363.8:c.2269del	ENSP00000221363.4:p.Asp757IlefsTer8
ENST00000456935.6:c.2272del	ENSP00000395473.2:p.Asp758IlefsTer8
ENST00000466794.5:n.2862del
NM_000528.3:c.2272del	NP_000519.2:p.Asp758IlefsTer8
NM_001173498.1:c.2269del	NP_001166969.1:p.Asp757IlefsTer8
XM_005259913.1:c.2275del	XP_005259970.1:p.Asp759IlefsTer8
XM_011528017.1:c.1171del	XP_011526319.1:p.Asp391IlefsTer8
XM_005259913.2:c.2275del	XP_005259970.1:p.Asp759IlefsTer8
XM_024451518.1:c.1171del	XP_024307286.1:p.Asp391IlefsTer8
NM_000528.4:c.2272del MANE Select	NP_000519.2:p.Asp758IlefsTer8
NM_001173498.2:c.2269del	NP_001166969.1:p.Asp757IlefsTer8