Canonical Allele Identifier: CA2580096502

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1724931
• ClinVar RCV Id: RCV002307990

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657023del , CM000681.2:g.12657023del	GRCh38
NC_000019.9:g.12767837del , CM000681.1:g.12767837del	GRCh37
NC_000019.8:g.12628837del	NCBI36
NG_008318.1:g.14756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1454del MANE Select	ENSP00000395473.2:p.Gly485AlafsTer12
ENST00000221363.8:c.1451del	ENSP00000221363.4:p.Gly484AlafsTer12
ENST00000433513.5:n.60del
ENST00000456935.6:c.1454del	ENSP00000395473.2:p.Gly485AlafsTer12
ENST00000466794.5:n.1353del
ENST00000495617.1:n.630del
ENST00000593686.1:c.64del
ENST00000595880.5:n.51del
NM_000528.3:c.1454del	NP_000519.2:p.Gly485AlafsTer12
NM_001173498.1:c.1451del	NP_001166969.1:p.Gly484AlafsTer12
XM_005259913.1:c.1457del	XP_005259970.1:p.Gly486AlafsTer12
XM_011528017.1:c.353del	XP_011526319.1:p.Gly118AlafsTer12
XM_005259913.2:c.1457del	XP_005259970.1:p.Gly486AlafsTer12
XM_024451518.1:c.353del	XP_024307286.1:p.Gly118AlafsTer12
NM_000528.4:c.1454del MANE Select	NP_000519.2:p.Gly485AlafsTer12
NM_001173498.2:c.1451del	NP_001166969.1:p.Gly484AlafsTer12