Canonical Allele Identifier: CA2582722641
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665431del , CM000681.2:g.12665431del GRCh38
NC_000019.9:g.12776245del , CM000681.1:g.12776245del GRCh37
NC_000019.8:g.12637245del NCBI36
NG_008318.1:g.6348del
NG_015814.1:g.3628del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.358del MANE Select ENSP00000395473.2:p.Glu120ArgfsTer?
ENST00000221363.8:c.358del ENSP00000221363.4:p.Glu120ArgfsTer?
ENST00000456935.6:c.358del ENSP00000395473.2:p.Glu120ArgfsTer?
ENST00000466794.5:n.340del
ENST00000486847.2:c.255del ENSP00000470174.1:p.Trp85Ter
ENST00000596512.5:n.296del
ENST00000597961.1:c.349del ENSP00000472710.1:p.Glu117ArgfsTer?
ENST00000598876.1:c.385del ENSP00000470533.1:p.Glu129ArgfsTer?
ENST00000600281.1:n.399del
NM_000528.3:c.358del NP_000519.2:p.Glu120ArgfsTer?
NM_001173498.1:c.358del NP_001166969.1:p.Glu120ArgfsTer?
XM_005259913.1:c.358del XP_005259970.1:p.Glu120ArgfsTer?
XM_005259913.2:c.358del XP_005259970.1:p.Glu120ArgfsTer?
XM_024451518.1:c.-661del XP_024307286.1:n.-661del
NM_000528.4:c.358del MANE Select NP_000519.2:p.Glu120ArgfsTer?
NM_001173498.2:c.358del NP_001166969.1:p.Glu120ArgfsTer?