Canonical Allele Identifier: CA645594046
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936687del , CM000673.2:g.68936687del GRCh38
NC_000011.9:g.68704155del , CM000673.1:g.68704155del GRCh37
NC_000011.8:g.68460731del NCBI36
NG_007976.1:g.37837del , LRG_250:g.37837del

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2207del MANE Select ENSP00000255078.4:p.Phe736SerfsTer26
ENST00000674675.1:c.451del
ENST00000674878.1:c.451del
ENST00000674955.1:c.*924del ENSP00000502463.1:n.*924del
ENST00000675118.1:c.1695del
ENST00000675389.1:n.482del
ENST00000675615.1:c.2207del ENSP00000502413.1:p.Phe736SerfsTer26
ENST00000675648.1:n.1582del
ENST00000675916.1:c.451del
ENST00000676173.1:n.2952del
ENST00000676182.1:c.638del
ENST00000676228.1:c.*1530del ENSP00000502375.1:n.*1530del
ENST00000255078.7:c.2207del ENSP00000255078.3:p.Phe736SerfsTer26
ENST00000539064.5:n.1966del
ENST00000543739.5:n.1200del
NM_002180.2:c.2207del , LRG_250t1:c.2207del NP_002171.2:p.Phe736SerfsTer26
XM_005273974.2:c.1196del XP_005274031.1:p.Phe399SerfsTer26
XM_005273975.2:c.1079del XP_005274032.1:p.Phe360SerfsTer26
XM_011544994.1:c.974del XP_011543296.1:p.Phe325SerfsTer26
XR_949903.1:n.2309del
XM_005273975.3:c.1079del XP_005274032.1:p.Phe360SerfsTer26
XM_017017669.2:c.1196del XP_016873158.1:p.Phe399SerfsTer26
XM_017017670.2:c.1196del XP_016873159.1:p.Phe399SerfsTer26
XR_949903.3:n.2305del
NM_002180.3:c.2207del MANE Select NP_002171.2:p.Phe736SerfsTer26