Canonical Allele Identifier: CA16041951
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371492
ClinVar RCV Id: RCV000410001
dbSNP Id: rs1057517316
MyVariant Identifiers: chr19:g.12767818_12767822del (hg19) chr19:g.12657004_12657008del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657008_12657012del , CM000681.2:g.12657008_12657012del GRCh38
NC_000019.9:g.12767822_12767826del , CM000681.1:g.12767822_12767826del GRCh37
NC_000019.8:g.12628822_12628826del NCBI36
NG_008318.1:g.14770_14774del

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1468_1472del MANE Select ENSP00000395473.2:p.Phe490LeufsTer25
ENST00000221363.8:c.1465_1469del ENSP00000221363.4:p.Phe489LeufsTer25
ENST00000433513.5:n.74_78del
ENST00000456935.6:c.1468_1472del ENSP00000395473.2:p.Phe490LeufsTer25
ENST00000466794.5:n.1367_1371del
ENST00000495617.1:n.644_648del
ENST00000593686.1:c.78_82del
ENST00000595880.5:n.65_69del
NM_000528.3:c.1468_1472del NP_000519.2:p.Phe490LeufsTer25
NM_001173498.1:c.1465_1469del NP_001166969.1:p.Phe489LeufsTer25
XM_005259913.1:c.1471_1475del XP_005259970.1:p.Phe491LeufsTer25
XM_011528017.1:c.367_371del XP_011526319.1:p.Phe123LeufsTer25
XM_005259913.2:c.1471_1475del XP_005259970.1:p.Phe491LeufsTer25
XM_024451518.1:c.367_371del XP_024307286.1:p.Phe123LeufsTer25
NM_000528.4:c.1468_1472del MANE Select NP_000519.2:p.Phe490LeufsTer25
NM_001173498.2:c.1465_1469del NP_001166969.1:p.Phe489LeufsTer25
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