Canonical Allele Identifier: CA6153662

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 234316
• ClinVar RCV Id: RCV000219401 ; RCV000235082 ; RCV000539394 ; RCV000780353 ; RCV001172566 ; RCV002277579 ; RCV002390588
• dbSNP Id: rs145226920
• ExAC: 11:68701332 C / A
• gnomAD v2: 11-68701332-C-A
• gnomAD v3: 11-68933864-C-A
• gnomAD v4: 11-68933864-C-A
• MyVariant Identifiers: chr11:g.68701332C>A (hg19) ; chr11:g.68933864C>A (hg38)
• PubMed: PMID:14506069 ; PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933864C>A , CM000673.2:g.68933864C>A	GRCh38
NC_000011.9:g.68701332C>A , CM000673.1:g.68701332C>A	GRCh37
NC_000011.8:g.68457908C>A	NCBI36
NG_007976.1:g.35014C>A , LRG_250:g.35014C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1488C>A MANE Select	ENSP00000255078.4:p.Cys496Ter
ENST00000674955.1:c.*205C>A	ENSP00000502463.1:n.*205C>A
ENST00000675118.1:c.976C>A
ENST00000675205.1:n.183+383C>A
ENST00000675615.1:c.1488C>A	ENSP00000502413.1:p.Cys496Ter
ENST00000675648.1:n.863C>A
ENST00000675997.1:n.113-600C>A
ENST00000676173.1:n.2233C>A
ENST00000676228.1:c.*811C>A	ENSP00000502375.1:n.*811C>A
ENST00000255078.7:c.1488C>A	ENSP00000255078.3:p.Cys496Ter
ENST00000537458.5:n.605C>A
ENST00000539064.5:n.1247C>A
ENST00000541229.5:n.183C>A
ENST00000543739.5:n.605C>A
NM_002180.2:c.1488C>A , LRG_250t1:c.1488C>A	NP_002171.2:p.Cys496Ter
XM_005273974.2:c.477C>A	XP_005274031.1:p.Cys159Ter
XM_005273975.2:c.360C>A	XP_005274032.1:p.Cys120Ter
XM_011544994.1:c.255C>A	XP_011543296.1:p.Cys85Ter
XR_949903.1:n.1590C>A
XM_005273975.3:c.360C>A	XP_005274032.1:p.Cys120Ter
XM_017017669.2:c.477C>A	XP_016873158.1:p.Cys159Ter
XM_017017670.2:c.477C>A	XP_016873159.1:p.Cys159Ter
XM_017017671.2:c.1488C>A	XP_016873160.1:p.Cys496Ter
XR_949903.3:n.1586C>A
NM_002180.3:c.1488C>A MANE Select	NP_002171.2:p.Cys496Ter