Canonical Allele Identifier: CA6153793

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 245883
• ClinVar RCV Id: RCV000235293 ; RCV000551552 ; RCV001112400 ; RCV001173562 ; RCV002411069
• dbSNP Id: rs201640213
• ExAC: 11:68703792 G / A
• gnomAD v2: 11-68703792-G-A
• gnomAD v3: 11-68936324-G-A
• gnomAD v4: 11-68936324-G-A
• MyVariant Identifiers: chr11:g.68703792G>A (hg19) ; chr11:g.68936324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936324G>A , CM000673.2:g.68936324G>A	GRCh38
NC_000011.9:g.68703792G>A , CM000673.1:g.68703792G>A	GRCh37
NC_000011.8:g.68460368G>A	NCBI36
NG_007976.1:g.37474G>A , LRG_250:g.37474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1844G>A MANE Select	ENSP00000255078.4:p.Arg615His
ENST00000674675.1:c.88G>A
ENST00000674878.1:c.88G>A
ENST00000674955.1:c.*561G>A	ENSP00000502463.1:n.*561G>A
ENST00000675118.1:c.1332G>A
ENST00000675389.1:n.119G>A
ENST00000675615.1:c.1844G>A	ENSP00000502413.1:p.Arg615His
ENST00000675648.1:n.1219G>A
ENST00000675916.1:c.88G>A
ENST00000676173.1:n.2589G>A
ENST00000676182.1:c.275G>A
ENST00000676228.1:c.*1167G>A	ENSP00000502375.1:n.*1167G>A
ENST00000255078.7:c.1844G>A	ENSP00000255078.3:p.Arg615His
ENST00000539064.5:n.1603G>A
ENST00000541229.5:n.539G>A
ENST00000543739.5:n.837G>A
ENST00000545475.1:n.440G>A
NM_002180.2:c.1844G>A , LRG_250t1:c.1844G>A	NP_002171.2:p.Arg615His
XM_005273974.2:c.833G>A	XP_005274031.1:p.Arg278His
XM_005273975.2:c.716G>A	XP_005274032.1:p.Arg239His
XM_011544994.1:c.611G>A	XP_011543296.1:p.Arg204His
XR_949903.1:n.1946G>A
XM_005273975.3:c.716G>A	XP_005274032.1:p.Arg239His
XM_017017669.2:c.833G>A	XP_016873158.1:p.Arg278His
XM_017017670.2:c.833G>A	XP_016873159.1:p.Arg278His
XR_949903.3:n.1942G>A
NM_002180.3:c.1844G>A MANE Select	NP_002171.2:p.Arg615His