Canonical Allele Identifier: CA2792557841
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936475_68936476del , CM000673.2:g.68936475_68936476del GRCh38
NC_000011.9:g.68703943_68703944del , CM000673.1:g.68703943_68703944del GRCh37
NC_000011.8:g.68460519_68460520del NCBI36
NG_007976.1:g.37625_37626del , LRG_250:g.37625_37626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1995_1996del MANE Select ENSP00000255078.4:p.Lys665AsnfsTer?
ENST00000674675.1:c.239_240del
ENST00000674878.1:c.239_240del
ENST00000674955.1:c.*712_*713del ENSP00000502463.1:n.*712_*713del
ENST00000675118.1:c.1483_1484del
ENST00000675389.1:n.270_271del
ENST00000675615.1:c.1995_1996del ENSP00000502413.1:p.Lys665AsnfsTer?
ENST00000675648.1:n.1370_1371del
ENST00000675916.1:c.239_240del
ENST00000676173.1:n.2740_2741del
ENST00000676182.1:c.426_427del
ENST00000676228.1:c.*1318_*1319del ENSP00000502375.1:n.*1318_*1319del
ENST00000255078.7:c.1995_1996del ENSP00000255078.3:p.Lys665AsnfsTer?
ENST00000539064.5:n.1754_1755del
ENST00000543739.5:n.988_989del
NM_002180.2:c.1995_1996del , LRG_250t1:c.1995_1996del NP_002171.2:p.Lys665AsnfsTer?
XM_005273974.2:c.984_985del XP_005274031.1:p.Lys328AsnfsTer?
XM_005273975.2:c.867_868del XP_005274032.1:p.Lys289AsnfsTer?
XM_011544994.1:c.762_763del XP_011543296.1:p.Lys254AsnfsTer?
XR_949903.1:n.2097_2098del
XM_005273975.3:c.867_868del XP_005274032.1:p.Lys289AsnfsTer?
XM_017017669.2:c.984_985del XP_016873158.1:p.Lys328AsnfsTer?
XM_017017670.2:c.984_985del XP_016873159.1:p.Lys328AsnfsTer?
XR_949903.3:n.2093_2094del
NM_002180.3:c.1995_1996del MANE Select NP_002171.2:p.Lys665AsnfsTer?