Canonical Allele Identifier: CA2580096483

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2096661
• ClinVar RCV Id: RCV003016297

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665445dup , CM000681.2:g.12665445dup	GRCh38
NC_000019.9:g.12776259dup , CM000681.1:g.12776259dup	GRCh37
NC_000019.8:g.12637259dup	NCBI36
NG_008318.1:g.6333dup
NG_015814.1:g.3642dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.343dup MANE Select	ENSP00000395473.2:p.Arg115ProfsTer?
ENST00000221363.8:c.343dup	ENSP00000221363.4:p.Arg115ProfsTer?
ENST00000456935.6:c.343dup	ENSP00000395473.2:p.Arg115ProfsTer?
ENST00000466794.5:n.325dup
ENST00000486847.2:c.240dup	ENSP00000470174.1:p.Ala81ArgfsTer?
ENST00000596512.5:n.281dup
ENST00000597961.1:c.334dup	ENSP00000472710.1:p.Arg112ProfsTer?
ENST00000598876.1:c.370dup	ENSP00000470533.1:p.Arg124ProfsTer?
ENST00000600281.1:n.384dup
NM_000528.3:c.343dup	NP_000519.2:p.Arg115ProfsTer?
NM_001173498.1:c.343dup	NP_001166969.1:p.Arg115ProfsTer?
XM_005259913.1:c.343dup	XP_005259970.1:p.Arg115ProfsTer?
XM_005259913.2:c.343dup	XP_005259970.1:p.Arg115ProfsTer?
XM_024451518.1:c.-676dup	XP_024307286.1:n.-676dup
NM_000528.4:c.343dup MANE Select	NP_000519.2:p.Arg115ProfsTer?
NM_001173498.2:c.343dup	NP_001166969.1:p.Arg115ProfsTer?