Canonical Allele Identifier: CA645594048
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936902del , CM000673.2:g.68936902del GRCh38
NC_000011.9:g.68704370del , CM000673.1:g.68704370del GRCh37
NC_000011.8:g.68460946del NCBI36
NG_007976.1:g.38052del , LRG_250:g.38052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2422del MANE Select ENSP00000255078.4:p.Val808CysfsTer23
ENST00000674675.1:c.588-21del
ENST00000674878.1:c.548-21del
ENST00000675118.1:c.1910del
ENST00000675389.1:n.697del
ENST00000675615.1:c.2422del ENSP00000502413.1:p.Val808CysfsTer23
ENST00000675648.1:n.1797del
ENST00000675916.1:c.666del
ENST00000676173.1:n.3167del
ENST00000676182.1:c.853del
ENST00000676228.1:c.*1745del ENSP00000502375.1:n.*1745del
ENST00000255078.7:c.2422del ENSP00000255078.3:p.Val808CysfsTer23
ENST00000539064.5:n.2181del
ENST00000543739.5:n.1415del
NM_002180.2:c.2422del , LRG_250t1:c.2422del NP_002171.2:p.Val808CysfsTer23
XM_005273974.2:c.1411del XP_005274031.1:p.Val471CysfsTer23
XM_005273975.2:c.1294del XP_005274032.1:p.Val432CysfsTer23
XM_011544994.1:c.1189del XP_011543296.1:p.Val397CysfsTer23
XR_949903.1:n.2524del
XM_005273975.3:c.1294del XP_005274032.1:p.Val432CysfsTer23
XM_017017669.2:c.1411del XP_016873158.1:p.Val471CysfsTer23
XM_017017670.2:c.1411del XP_016873159.1:p.Val471CysfsTer23
XR_949903.3:n.2520del
NM_002180.3:c.2422del MANE Select NP_002171.2:p.Val808CysfsTer23