Canonical Allele Identifier: CA16041947
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370172
ClinVar RCV Id: RCV000410846
dbSNP Id: rs1057516289
MyVariant Identifiers: chr19:g.12763254del (hg19) chr19:g.12652440del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12652440del , CM000681.2:g.12652440del GRCh38
NC_000019.9:g.12763254del , CM000681.1:g.12763254del GRCh37
NC_000019.8:g.12624254del NCBI36
NG_008318.1:g.19338del

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1851del MANE Select ENSP00000395473.2:p.Pro618LeufsTer6
ENST00000221363.8:c.1848del ENSP00000221363.4:p.Pro617LeufsTer6
ENST00000433513.5:n.457del
ENST00000456935.6:c.1851del ENSP00000395473.2:p.Pro618LeufsTer6
ENST00000466794.5:n.2441del
ENST00000593686.1:c.444del
ENST00000595880.5:n.448del
ENST00000596591.1:c.195-11del
NM_000528.3:c.1851del NP_000519.2:p.Pro618LeufsTer6
NM_001173498.1:c.1848del NP_001166969.1:p.Pro617LeufsTer6
XM_005259913.1:c.1854del XP_005259970.1:p.Pro619LeufsTer6
XM_011528017.1:c.750del XP_011526319.1:p.Pro251LeufsTer6
XM_005259913.2:c.1854del XP_005259970.1:p.Pro619LeufsTer6
XM_024451518.1:c.750del XP_024307286.1:p.Pro251LeufsTer6
NM_000528.4:c.1851del MANE Select NP_000519.2:p.Pro618LeufsTer6
NM_001173498.2:c.1848del NP_001166969.1:p.Pro617LeufsTer6
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