Canonical Allele Identifier: CA501047

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936910del , CM000673.2:g.68936910del	GRCh38
NC_000011.9:g.68704378del , CM000673.1:g.68704378del	GRCh37
NC_000011.8:g.68460954del	NCBI36
NG_007976.1:g.38060del , LRG_250:g.38060del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2430del MANE Select	ENSP00000255078.4:p.Thr811ProfsTer20
ENST00000674675.1:c.588-13del
ENST00000674878.1:c.548-13del
ENST00000675118.1:c.1918del
ENST00000675389.1:n.705del
ENST00000675615.1:c.2430del	ENSP00000502413.1:p.Thr811ProfsTer20
ENST00000675648.1:n.1805del
ENST00000675916.1:c.674del
ENST00000676173.1:n.3175del
ENST00000676182.1:c.861del
ENST00000676228.1:c.*1753del	ENSP00000502375.1:n.*1753del
ENST00000255078.7:c.2430del	ENSP00000255078.3:p.Thr811ProfsTer20
ENST00000539064.5:n.2189del
ENST00000543739.5:n.1423del
NM_002180.2:c.2430del , LRG_250t1:c.2430del	NP_002171.2:p.Thr811ProfsTer20
XM_005273974.2:c.1419del	XP_005274031.1:p.Thr474ProfsTer20
XM_005273975.2:c.1302del	XP_005274032.1:p.Thr435ProfsTer20
XM_011544994.1:c.1197del	XP_011543296.1:p.Thr400ProfsTer20
XR_949903.1:n.2532del
XM_005273975.3:c.1302del	XP_005274032.1:p.Thr435ProfsTer20
XM_017017669.2:c.1419del	XP_016873158.1:p.Thr474ProfsTer20
XM_017017670.2:c.1419del	XP_016873159.1:p.Thr474ProfsTer20
XR_949903.3:n.2528del
NM_002180.3:c.2430del MANE Select	NP_002171.2:p.Thr811ProfsTer20