Canonical Allele Identifier: CA2580096524

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2118728
• ClinVar RCV Id: RCV003030624

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658307del , CM000681.2:g.12658307del	GRCh38
NC_000019.9:g.12769121del , CM000681.1:g.12769121del	GRCh37
NC_000019.8:g.12630121del	NCBI36
NG_008318.1:g.13472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1148del MANE Select	ENSP00000395473.2:p.Gly383AlafsTer?
ENST00000221363.8:c.1145del	ENSP00000221363.4:p.Gly382AlafsTer?
ENST00000456935.6:c.1148del	ENSP00000395473.2:p.Gly383AlafsTer?
ENST00000465830.1:n.312del
ENST00000466794.5:n.1047del
ENST00000495617.1:n.280+425del
NM_000528.3:c.1148del	NP_000519.2:p.Gly383AlafsTer?
NM_001173498.1:c.1145del	NP_001166969.1:p.Gly382AlafsTer?
XM_005259913.1:c.1151del	XP_005259970.1:p.Gly384AlafsTer?
XM_011528017.1:c.47del	XP_011526319.1:p.Gly16AlafsTer?
XM_005259913.2:c.1151del	XP_005259970.1:p.Gly384AlafsTer?
XM_024451518.1:c.47del	XP_024307286.1:p.Gly16AlafsTer?
NM_000528.4:c.1148del MANE Select	NP_000519.2:p.Gly383AlafsTer?
NM_001173498.2:c.1145del	NP_001166969.1:p.Gly382AlafsTer?