Canonical Allele Identifier: CA2740093134

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2945664
• ClinVar RCV Id: RCV003803758

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936356del , CM000673.2:g.68936356del	GRCh38
NC_000011.9:g.68703824del , CM000673.1:g.68703824del	GRCh37
NC_000011.8:g.68460400del	NCBI36
NG_007976.1:g.37506del , LRG_250:g.37506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1876del MANE Select	ENSP00000255078.4:p.Leu626TrpfsTer?
ENST00000674675.1:c.120del
ENST00000674878.1:c.120del
ENST00000674955.1:c.*593del	ENSP00000502463.1:n.*593del
ENST00000675118.1:c.1364del
ENST00000675389.1:n.151del
ENST00000675615.1:c.1876del	ENSP00000502413.1:p.Leu626TrpfsTer?
ENST00000675648.1:n.1251del
ENST00000675916.1:c.120del
ENST00000676173.1:n.2621del
ENST00000676182.1:c.307del
ENST00000676228.1:c.*1199del	ENSP00000502375.1:n.*1199del
ENST00000255078.7:c.1876del	ENSP00000255078.3:p.Leu626TrpfsTer?
ENST00000539064.5:n.1635del
ENST00000543739.5:n.869del
ENST00000545475.1:n.472del
NM_002180.2:c.1876del , LRG_250t1:c.1876del	NP_002171.2:p.Leu626TrpfsTer?
XM_005273974.2:c.865del	XP_005274031.1:p.Leu289TrpfsTer?
XM_005273975.2:c.748del	XP_005274032.1:p.Leu250TrpfsTer?
XM_011544994.1:c.643del	XP_011543296.1:p.Leu215TrpfsTer?
XR_949903.1:n.1978del
XM_005273975.3:c.748del	XP_005274032.1:p.Leu250TrpfsTer?
XM_017017669.2:c.865del	XP_016873158.1:p.Leu289TrpfsTer?
XM_017017670.2:c.865del	XP_016873159.1:p.Leu289TrpfsTer?
XR_949903.3:n.1974del
NM_002180.3:c.1876del MANE Select	NP_002171.2:p.Leu626TrpfsTer?