Canonical Allele Identifier: CA2580096525

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1726200
• ClinVar RCV Id: RCV002307171

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658311del , CM000681.2:g.12658311del	GRCh38
NC_000019.9:g.12769125del , CM000681.1:g.12769125del	GRCh37
NC_000019.8:g.12630125del	NCBI36
NG_008318.1:g.13468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1144del MANE Select	ENSP00000395473.2:p.Asp382MetfsTer?
ENST00000221363.8:c.1141del	ENSP00000221363.4:p.Asp381MetfsTer?
ENST00000456935.6:c.1144del	ENSP00000395473.2:p.Asp382MetfsTer?
ENST00000465830.1:n.308del
ENST00000466794.5:n.1043del
ENST00000495617.1:n.280+421del
NM_000528.3:c.1144del	NP_000519.2:p.Asp382MetfsTer?
NM_001173498.1:c.1141del	NP_001166969.1:p.Asp381MetfsTer?
XM_005259913.1:c.1147del	XP_005259970.1:p.Asp383MetfsTer?
XM_011528017.1:c.43del	XP_011526319.1:p.Asp15MetfsTer?
XM_005259913.2:c.1147del	XP_005259970.1:p.Asp383MetfsTer?
XM_024451518.1:c.43del	XP_024307286.1:p.Asp15MetfsTer?
NM_000528.4:c.1144del MANE Select	NP_000519.2:p.Asp382MetfsTer?
NM_001173498.2:c.1141del	NP_001166969.1:p.Asp381MetfsTer?