Canonical Allele Identifier: CA2580084776

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1945190
• ClinVar RCV Id: RCV002680749

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915002del , CM000673.2:g.68915002del	GRCh38
NC_000011.9:g.68682470del , CM000673.1:g.68682470del	GRCh37
NC_000011.8:g.68439046del	NCBI36
NG_007976.1:g.16152del , LRG_250:g.16152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.891del MANE Select	ENSP00000255078.4:p.Lys298ArgfsTer8
ENST00000539224.2:c.1020del
ENST00000674955.1:c.891del	ENSP00000502463.1:p.Lys298ArgfsTer8
ENST00000675118.1:c.238del
ENST00000675119.1:c.180del	ENSP00000501861.1:p.Lys61ArgfsTer?
ENST00000675305.1:c.180del	ENSP00000502365.1:p.Lys61ArgfsTer9
ENST00000675464.1:c.180del	ENSP00000502650.1:p.Lys61ArgfsTer6
ENST00000675615.1:c.891del	ENSP00000502413.1:p.Lys298ArgfsTer8
ENST00000675683.1:c.278del
ENST00000676173.1:n.935del
ENST00000676228.1:c.*214del	ENSP00000502375.1:n.*214del
ENST00000676239.1:n.205del
ENST00000255078.7:c.891del	ENSP00000255078.3:p.Lys298ArgfsTer8
NM_002180.2:c.891del , LRG_250t1:c.891del	NP_002171.2:p.Lys298ArgfsTer8
XM_005273974.2:c.-121del	XP_005274031.1:n.-121del
XM_005273976.1:c.891del	XP_005274033.1:p.Lys298ArgfsTer8
XR_247198.1:n.993del
XR_949903.1:n.993del
XM_005273976.2:c.891del	XP_005274033.1:p.Lys298ArgfsTer8
XM_017017669.2:c.-121del	XP_016873158.1:n.-121del
XM_017017670.2:c.-121del	XP_016873159.1:n.-121del
XM_017017671.2:c.891del	XP_016873160.1:p.Lys298ArgfsTer8
XR_949903.3:n.989del
NM_002180.3:c.891del MANE Select	NP_002171.2:p.Lys298ArgfsTer8