Canonical Allele Identifier: CA915948801

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637270
• ClinVar RCV Id: RCV000789347 ; RCV001856233
• dbSNP Id: rs1594427564
• gnomAD v4: 11-68914890-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914891del , CM000673.2:g.68914891del	GRCh38
NC_000011.9:g.68682359del , CM000673.1:g.68682359del	GRCh37
NC_000011.8:g.68438935del	NCBI36
NG_007976.1:g.16041del , LRG_250:g.16041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.780del MANE Select	ENSP00000255078.4:p.Gln260HisfsTer25
ENST00000539224.2:c.909del
ENST00000674955.1:c.780del	ENSP00000502463.1:p.Gln260HisfsTer25
ENST00000675118.1:c.127del
ENST00000675119.1:c.69del	ENSP00000501861.1:p.Gln23HisfsTer25
ENST00000675305.1:c.69del	ENSP00000502365.1:p.Gln23HisfsTer25
ENST00000675464.1:c.69del	ENSP00000502650.1:p.Gln23HisfsTer25
ENST00000675615.1:c.780del	ENSP00000502413.1:p.Gln260HisfsTer25
ENST00000675683.1:c.167del
ENST00000676173.1:n.824del
ENST00000676228.1:c.*103del	ENSP00000502375.1:n.*103del
ENST00000676239.1:n.94del
ENST00000255078.7:c.780del	ENSP00000255078.3:p.Gln260HisfsTer25
ENST00000539224.1:c.*103del	ENSP00000440465.1:n.*103del
NM_002180.2:c.780del , LRG_250t1:c.780del	NP_002171.2:p.Gln260HisfsTer25
XM_005273974.2:c.-232del	XP_005274031.1:n.-232del
XM_005273976.1:c.780del	XP_005274033.1:p.Gln260HisfsTer25
XR_247198.1:n.882del
XR_949903.1:n.882del
XM_005273976.2:c.780del	XP_005274033.1:p.Gln260HisfsTer25
XM_017017669.2:c.-232del	XP_016873158.1:n.-232del
XM_017017670.2:c.-232del	XP_016873159.1:n.-232del
XM_017017671.2:c.780del	XP_016873160.1:p.Gln260HisfsTer25
XR_949903.3:n.878del
NM_002180.3:c.780del MANE Select	NP_002171.2:p.Gln260HisfsTer25