Canonical Allele Identifier: CA679633789

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933417del , CM000673.2:g.68933417del	GRCh38
NC_000011.9:g.68700885del , CM000673.1:g.68700885del	GRCh37
NC_000011.8:g.68457461del	NCBI36
NG_007976.1:g.34567del , LRG_250:g.34567del

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1354del MANE Select	NP_002171.2:p.Ala452ProfsTer21
ENST00000255078.8:c.1354del MANE Select	ENSP00000255078.4:p.Ala452ProfsTer21
NM_002180.2:c.1354del , LRG_250t1:c.1354del	NP_002171.2:p.Ala452ProfsTer21
ENST00000255078.7:c.1354del	ENSP00000255078.3:p.Ala452ProfsTer21
ENST00000536803.2:n.265del
ENST00000537458.5:n.471del
ENST00000539064.5:n.1113del
ENST00000543739.5:n.471del
ENST00000674955.1:c.*71del	ENSP00000502463.1:n.*71del
ENST00000675118.1:c.842del
ENST00000675205.1:n.119del
ENST00000675310.1:n.491del
ENST00000675615.1:c.1354del	ENSP00000502413.1:p.Ala452ProfsTer21
ENST00000675648.1:n.729del
ENST00000675997.1:n.113-1047del
ENST00000676149.1:n.428del
ENST00000676173.1:n.2099del
ENST00000676228.1:c.*677del	ENSP00000502375.1:n.*677del
XM_005273974.2:c.343del	XP_005274031.1:p.Ala115ProfsTer21
XM_005273975.2:c.226del	XP_005274032.1:p.Ala76ProfsTer21
XM_005273975.3:c.226del	XP_005274032.1:p.Ala76ProfsTer21
XM_011544994.1:c.121del	XP_011543296.1:p.Ala41ProfsTer21
XM_017017669.2:c.343del	XP_016873158.1:p.Ala115ProfsTer21
XM_017017670.2:c.343del	XP_016873159.1:p.Ala115ProfsTer21
XM_017017671.2:c.1354del	XP_016873160.1:p.Ala452ProfsTer21
XR_949903.1:n.1456del
XR_949903.3:n.1452del