Canonical Allele Identifier: CA6153886

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637908
• ClinVar RCV Id: RCV000790284 ; RCV000800244
• dbSNP Id: rs750994603
• ExAC: 11:68704301 AG / A
• gnomAD v2: 11-68704301-AG-A
• gnomAD v3: 11-68936833-AG-A
• gnomAD v4: 11-68936833-AG-A
• MyVariant Identifiers: chr11:g.68704302del (hg19) ; chr11:g.68936834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936836del , CM000673.2:g.68936836del	GRCh38
NC_000011.9:g.68704304del , CM000673.1:g.68704304del	GRCh37
NC_000011.8:g.68460880del	NCBI36
NG_007976.1:g.37986del , LRG_250:g.37986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2356del MANE Select	ENSP00000255078.4:p.Ala786ProfsTer?
ENST00000674675.1:c.587+13del
ENST00000674878.1:c.547+53del
ENST00000674955.1:c.*1073del	ENSP00000502463.1:n.*1073del
ENST00000675118.1:c.1844del
ENST00000675389.1:n.631del
ENST00000675615.1:c.2356del	ENSP00000502413.1:p.Ala786ProfsTer?
ENST00000675648.1:n.1731del
ENST00000675916.1:c.600del
ENST00000676173.1:n.3101del
ENST00000676182.1:c.787del
ENST00000676228.1:c.*1679del	ENSP00000502375.1:n.*1679del
ENST00000255078.7:c.2356del	ENSP00000255078.3:p.Ala786ProfsTer?
ENST00000539064.5:n.2115del
ENST00000543739.5:n.1349del
NM_002180.2:c.2356del , LRG_250t1:c.2356del	NP_002171.2:p.Ala786ProfsTer?
XM_005273974.2:c.1345del	XP_005274031.1:p.Ala449ProfsTer?
XM_005273975.2:c.1228del	XP_005274032.1:p.Ala410ProfsTer?
XM_011544994.1:c.1123del	XP_011543296.1:p.Ala375ProfsTer?
XR_949903.1:n.2458del
XM_005273975.3:c.1228del	XP_005274032.1:p.Ala410ProfsTer?
XM_017017669.2:c.1345del	XP_016873158.1:p.Ala449ProfsTer?
XM_017017670.2:c.1345del	XP_016873159.1:p.Ala449ProfsTer?
XR_949903.3:n.2454del
NM_002180.3:c.2356del MANE Select	NP_002171.2:p.Ala786ProfsTer?