Canonical Allele Identifier: CA679587794

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 835758
• ClinVar RCV Id: RCV001036717 ; RCV004030998
• dbSNP Id: rs1189538200
• gnomAD v3: 11-68936904-GC-G
• gnomAD v4: 11-68936904-GC-G
• MyVariant Identifiers: chr11:g.68704373del (hg19) ; chr11:g.68936905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936909del , CM000673.2:g.68936909del	GRCh38
NC_000011.9:g.68704377del , CM000673.1:g.68704377del	GRCh37
NC_000011.8:g.68460953del	NCBI36
NG_007976.1:g.38059del , LRG_250:g.38059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2429del MANE Select	ENSP00000255078.4:p.Pro810LeufsTer21
ENST00000674675.1:c.588-14del
ENST00000674878.1:c.548-14del
ENST00000675118.1:c.1917del
ENST00000675389.1:n.704del
ENST00000675615.1:c.2429del	ENSP00000502413.1:p.Pro810LeufsTer21
ENST00000675648.1:n.1804del
ENST00000675916.1:c.673del
ENST00000676173.1:n.3174del
ENST00000676182.1:c.860del
ENST00000676228.1:c.*1752del	ENSP00000502375.1:n.*1752del
ENST00000255078.7:c.2429del	ENSP00000255078.3:p.Pro810LeufsTer21
ENST00000539064.5:n.2188del
ENST00000543739.5:n.1422del
NM_002180.2:c.2429del , LRG_250t1:c.2429del	NP_002171.2:p.Pro810LeufsTer21
XM_005273974.2:c.1418del	XP_005274031.1:p.Pro473LeufsTer21
XM_005273975.2:c.1301del	XP_005274032.1:p.Pro434LeufsTer21
XM_011544994.1:c.1196del	XP_011543296.1:p.Pro399LeufsTer21
XR_949903.1:n.2531del
XM_005273975.3:c.1301del	XP_005274032.1:p.Pro434LeufsTer21
XM_017017669.2:c.1418del	XP_016873158.1:p.Pro473LeufsTer21
XM_017017670.2:c.1418del	XP_016873159.1:p.Pro473LeufsTer21
XR_949903.3:n.2527del
NM_002180.3:c.2429del MANE Select	NP_002171.2:p.Pro810LeufsTer21