Canonical Allele Identifier: CA2740093107

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2950068
• ClinVar RCV Id: RCV003807426

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914908del , CM000673.2:g.68914908del	GRCh38
NC_000011.9:g.68682376del , CM000673.1:g.68682376del	GRCh37
NC_000011.8:g.68438952del	NCBI36
NG_007976.1:g.16058del , LRG_250:g.16058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.797del MANE Select	ENSP00000255078.4:p.Gly266AspfsTer19
ENST00000539224.2:c.926del
ENST00000674955.1:c.797del	ENSP00000502463.1:p.Gly266AspfsTer19
ENST00000675118.1:c.144del
ENST00000675119.1:c.86del	ENSP00000501861.1:p.Gly29AspfsTer19
ENST00000675305.1:c.86del	ENSP00000502365.1:p.Gly29AspfsTer19
ENST00000675464.1:c.86del	ENSP00000502650.1:p.Gly29AspfsTer19
ENST00000675615.1:c.797del	ENSP00000502413.1:p.Gly266AspfsTer19
ENST00000675683.1:c.184del
ENST00000676173.1:n.841del
ENST00000676228.1:c.*120del	ENSP00000502375.1:n.*120del
ENST00000676239.1:n.111del
ENST00000255078.7:c.797del	ENSP00000255078.3:p.Gly266AspfsTer19
ENST00000539224.1:c.*120del	ENSP00000440465.1:n.*120del
NM_002180.2:c.797del , LRG_250t1:c.797del	NP_002171.2:p.Gly266AspfsTer19
XM_005273974.2:c.-215del	XP_005274031.1:n.-215del
XM_005273976.1:c.797del	XP_005274033.1:p.Gly266AspfsTer19
XR_247198.1:n.899del
XR_949903.1:n.899del
XM_005273976.2:c.797del	XP_005274033.1:p.Gly266AspfsTer19
XM_017017669.2:c.-215del	XP_016873158.1:n.-215del
XM_017017670.2:c.-215del	XP_016873159.1:n.-215del
XM_017017671.2:c.797del	XP_016873160.1:p.Gly266AspfsTer19
XR_949903.3:n.895del
NM_002180.3:c.797del MANE Select	NP_002171.2:p.Gly266AspfsTer19