Canonical Allele Identifier: CA2740093135

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2935417
• ClinVar RCV Id: RCV003791071

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937014del , CM000673.2:g.68937014del	GRCh38
NC_000011.9:g.68704482del , CM000673.1:g.68704482del	GRCh37
NC_000011.8:g.68461058del	NCBI36
NG_007976.1:g.38164del , LRG_250:g.38164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2534del MANE Select	ENSP00000255078.4:p.Gln845ArgfsTer?
ENST00000674675.1:c.679del
ENST00000674878.1:c.639del
ENST00000675118.1:c.2022del
ENST00000675389.1:n.809del
ENST00000675615.1:c.2534del	ENSP00000502413.1:p.Gln845ArgfsTer?
ENST00000675648.1:n.1909del
ENST00000675916.1:c.778del
ENST00000676173.1:n.3279del
ENST00000676182.1:c.965del
ENST00000676228.1:c.*1857del	ENSP00000502375.1:n.*1857del
ENST00000255078.7:c.2534del	ENSP00000255078.3:p.Gln845ArgfsTer?
ENST00000539064.5:n.2293del
ENST00000543739.5:n.1527del
NM_002180.2:c.2534del , LRG_250t1:c.2534del	NP_002171.2:p.Gln845ArgfsTer?
XM_005273974.2:c.1523del	XP_005274031.1:p.Gln508ArgfsTer?
XM_005273975.2:c.1406del	XP_005274032.1:p.Gln469ArgfsTer?
XM_011544994.1:c.1301del	XP_011543296.1:p.Gln434ArgfsTer?
XR_949903.1:n.2636del
XM_005273975.3:c.1406del	XP_005274032.1:p.Gln469ArgfsTer?
XM_017017669.2:c.1523del	XP_016873158.1:p.Gln508ArgfsTer?
XM_017017670.2:c.1523del	XP_016873159.1:p.Gln508ArgfsTer?
XR_949903.3:n.2632del
NM_002180.3:c.2534del MANE Select	NP_002171.2:p.Gln845ArgfsTer?