Canonical Allele Identifier: CA2580096494

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1724303
• ClinVar RCV Id: RCV002309571

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665763_12665764insAAATGTGTACA , CM000681.2:g.12665763_12665764insAAATGTGTACA	GRCh38
NC_000019.9:g.12776577_12776578insAAATGTGTACA , CM000681.1:g.12776577_12776578insAAATGTGTACA	GRCh37
NC_000019.8:g.12637577_12637578insAAATGTGTACA	NCBI36
NG_008318.1:g.6014_6015insTGTACACATTT
NG_015814.1:g.3960_3961insAAATGTGTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.201_202insTGTACACATTT MANE Select	ENSP00000395473.2:p.Leu68CysfsTer?
ENST00000221363.8:c.201_202insTGTACACATTT	ENSP00000221363.4:p.Leu68CysfsTer?
ENST00000456935.6:c.201_202insTGTACACATTT	ENSP00000395473.2:p.Leu68CysfsTer?
ENST00000466794.5:n.183_184insTGTACACATTT
ENST00000486847.2:c.160-239_160-238insTGTACACATTT	ENSP00000470174.1:n.160-239_160-238insTGTACACATTT
ENST00000596512.5:n.201-239_201-238insTGTACACATTT
ENST00000597961.1:c.192_193insTGTACACATTT	ENSP00000472710.1:p.Leu65CysfsTer?
ENST00000598876.1:c.228_229insTGTACACATTT	ENSP00000470533.1:p.Leu77CysfsTer?
ENST00000600281.1:n.242_243insTGTACACATTT
NM_000528.3:c.201_202insTGTACACATTT	NP_000519.2:p.Leu68CysfsTer?
NM_001173498.1:c.201_202insTGTACACATTT	NP_001166969.1:p.Leu68CysfsTer?
XM_005259913.1:c.201_202insTGTACACATTT	XP_005259970.1:p.Leu68CysfsTer?
XM_005259913.2:c.201_202insTGTACACATTT	XP_005259970.1:p.Leu68CysfsTer?
XM_024451518.1:c.-818_-817insTGTACACATTT	XP_024307286.1:n.-818_-817insTGTACACATTT
NM_000528.4:c.201_202insTGTACACATTT MANE Select	NP_000519.2:p.Leu68CysfsTer?
NM_001173498.2:c.201_202insTGTACACATTT	NP_001166969.1:p.Leu68CysfsTer?