Canonical Allele Identifier: CA2573147676

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1393140
• ClinVar RCV Id: RCV001912495
• dbSNP Id: rs2154006724

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908551del , CM000673.2:g.68908551del	GRCh38
NC_000011.9:g.68676019del , CM000673.1:g.68676019del	GRCh37
NC_000011.8:g.68432595del	NCBI36
NG_007976.1:g.9701del , LRG_250:g.9701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.467del MANE Select	ENSP00000255078.4:p.Lys156ArgfsTer12
ENST00000539224.2:c.430del
ENST00000674583.1:c.430del
ENST00000674597.1:c.278del
ENST00000674955.1:c.467del	ENSP00000502463.1:p.Lys156ArgfsTer12
ENST00000675142.1:n.430del
ENST00000675469.1:c.343del
ENST00000675615.1:c.467del	ENSP00000502413.1:p.Lys156ArgfsTer12
ENST00000675674.1:n.430del
ENST00000675683.1:c.18del
ENST00000675873.1:c.430del
ENST00000676173.1:n.511del
ENST00000676228.1:c.449+214del	ENSP00000502375.1:n.449+214del
ENST00000255078.7:c.467del	ENSP00000255078.3:p.Lys156ArgfsTer12
ENST00000539224.1:c.449+214del	ENSP00000440465.1:n.449+214del
ENST00000544541.1:c.*207del	ENSP00000443343.1:n.*207del
NM_002180.2:c.467del , LRG_250t1:c.467del	NP_002171.2:p.Lys156ArgfsTer12
XM_005273974.2:c.-545del	XP_005274031.1:n.-545del
XM_005273976.1:c.467del	XP_005274033.1:p.Lys156ArgfsTer12
XR_247198.1:n.569del
XR_949903.1:n.569del
XM_005273976.2:c.467del	XP_005274033.1:p.Lys156ArgfsTer12
XM_017017669.2:c.-465+214del	XP_016873158.1:n.-465+214del
XM_017017671.2:c.467del	XP_016873160.1:p.Lys156ArgfsTer12
XR_949903.3:n.565del
NM_002180.3:c.467del MANE Select	NP_002171.2:p.Lys156ArgfsTer12