Canonical Allele Identifier: CA918906034
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1594456607

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936832del , CM000673.2:g.68936832del GRCh38
NC_000011.9:g.68704300del , CM000673.1:g.68704300del GRCh37
NC_000011.8:g.68460876del NCBI36
NG_007976.1:g.37982del , LRG_250:g.37982del

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2352del MANE Select ENSP00000255078.4:p.Arg785GlyfsTer?
ENST00000674675.1:c.587+9del
ENST00000674878.1:c.547+49del
ENST00000674955.1:c.*1069del ENSP00000502463.1:n.*1069del
ENST00000675118.1:c.1840del
ENST00000675389.1:n.627del
ENST00000675615.1:c.2352del ENSP00000502413.1:p.Arg785GlyfsTer?
ENST00000675648.1:n.1727del
ENST00000675916.1:c.596del
ENST00000676173.1:n.3097del
ENST00000676182.1:c.783del
ENST00000676228.1:c.*1675del ENSP00000502375.1:n.*1675del
ENST00000255078.7:c.2352del ENSP00000255078.3:p.Arg785GlyfsTer?
ENST00000539064.5:n.2111del
ENST00000543739.5:n.1345del
NM_002180.2:c.2352del , LRG_250t1:c.2352del NP_002171.2:p.Arg785GlyfsTer?
XM_005273974.2:c.1341del XP_005274031.1:p.Arg448GlyfsTer?
XM_005273975.2:c.1224del XP_005274032.1:p.Arg409GlyfsTer?
XM_011544994.1:c.1119del XP_011543296.1:p.Arg374GlyfsTer?
XR_949903.1:n.2454del
XM_005273975.3:c.1224del XP_005274032.1:p.Arg409GlyfsTer?
XM_017017669.2:c.1341del XP_016873158.1:p.Arg448GlyfsTer?
XM_017017670.2:c.1341del XP_016873159.1:p.Arg448GlyfsTer?
XR_949903.3:n.2450del
NM_002180.3:c.2352del MANE Select NP_002171.2:p.Arg785GlyfsTer?