Canonical Allele Identifier: CA915952881

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 812348
• ClinVar RCV Id: RCV001003077
• dbSNP Id: rs1599338484

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647592_12647593del , CM000681.2:g.12647592_12647593del	GRCh38
NC_000019.9:g.12758406_12758407del , CM000681.1:g.12758406_12758407del	GRCh37
NC_000019.8:g.12619406_12619407del	NCBI36
NG_008318.1:g.24185_24186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2670_2671del MANE Select	ENSP00000395473.2:p.Gly891AlafsTer?
ENST00000221363.8:c.2667_2668del	ENSP00000221363.4:p.Gly890AlafsTer?
ENST00000456935.6:c.2670_2671del	ENSP00000395473.2:p.Gly891AlafsTer?
ENST00000466794.5:n.3260_3261del
ENST00000493218.5:n.81_82del
ENST00000597692.1:c.229_230del
NM_000528.3:c.2670_2671del	NP_000519.2:p.Gly891AlafsTer?
NM_001173498.1:c.2667_2668del	NP_001166969.1:p.Gly890AlafsTer?
XM_005259913.1:c.2673_2674del	XP_005259970.1:p.Gly892AlafsTer?
XM_011528017.1:c.1569_1570del	XP_011526319.1:p.Gly524AlafsTer?
XM_005259913.2:c.2673_2674del	XP_005259970.1:p.Gly892AlafsTer?
XM_024451518.1:c.1569_1570del	XP_024307286.1:p.Gly524AlafsTer?
NM_000528.4:c.2670_2671del MANE Select	NP_000519.2:p.Gly891AlafsTer?
NM_001173498.2:c.2667_2668del	NP_001166969.1:p.Gly890AlafsTer?