Canonical Allele Identifier: CA16041956
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370681
ClinVar RCV Id: RCV000412446
dbSNP Id: rs1057516682
MyVariant Identifiers: chr19:g.12775790del (hg19) chr19:g.12664976del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12664976del , CM000681.2:g.12664976del GRCh38
NC_000019.9:g.12775790del , CM000681.1:g.12775790del GRCh37
NC_000019.8:g.12636790del NCBI36
NG_008318.1:g.6802del
NG_015814.1:g.3173del

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.446del MANE Select ENSP00000395473.2:p.Glu149GlyfsTer8
ENST00000221363.8:c.446del ENSP00000221363.4:p.Glu149GlyfsTer8
ENST00000456935.6:c.446del ENSP00000395473.2:p.Glu149GlyfsTer8
ENST00000466794.5:n.428del
ENST00000486847.2:c.333+376del ENSP00000470174.1:n.333+376del
ENST00000596512.5:n.384del
ENST00000597961.1:c.437del ENSP00000472710.1:p.Glu146GlyfsTer8
ENST00000598876.1:c.473del ENSP00000470533.1:p.Glu158GlyfsTer8
NM_000528.3:c.446del NP_000519.2:p.Glu149GlyfsTer8
NM_001173498.1:c.446del NP_001166969.1:p.Glu149GlyfsTer8
XM_005259913.1:c.446del XP_005259970.1:p.Glu149GlyfsTer8
XM_005259913.2:c.446del XP_005259970.1:p.Glu149GlyfsTer8
XM_024451518.1:c.-573del XP_024307286.1:n.-573del
NM_000528.4:c.446del MANE Select NP_000519.2:p.Glu149GlyfsTer8
NM_001173498.2:c.446del NP_001166969.1:p.Glu149GlyfsTer8
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