Canonical Allele Identifier: CA6153783

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 235774
• ClinVar RCV Id: RCV000224756 ; RCV000557414 ; RCV000790280 ; RCV001173328 ; RCV003235149
• dbSNP Id: rs151079750
• ExAC: 11:68703756 G / A
• gnomAD v2: 11-68703756-G-A
• gnomAD v3: 11-68936288-G-A
• gnomAD v4: 11-68936288-G-A
• MyVariant Identifiers: chr11:g.68703756G>A (hg19) ; chr11:g.68936288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936288G>A , CM000673.2:g.68936288G>A	GRCh38
NC_000011.9:g.68703756G>A , CM000673.1:g.68703756G>A	GRCh37
NC_000011.8:g.68460332G>A	NCBI36
NG_007976.1:g.37438G>A , LRG_250:g.37438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1808G>A MANE Select	ENSP00000255078.4:p.Arg603His
ENST00000674675.1:c.52G>A
ENST00000674878.1:c.52G>A
ENST00000674955.1:c.*525G>A	ENSP00000502463.1:n.*525G>A
ENST00000675118.1:c.1296G>A
ENST00000675389.1:n.83G>A
ENST00000675615.1:c.1808G>A	ENSP00000502413.1:p.Arg603His
ENST00000675648.1:n.1183G>A
ENST00000675916.1:c.52G>A
ENST00000676173.1:n.2553G>A
ENST00000676182.1:c.239G>A
ENST00000676228.1:c.*1131G>A	ENSP00000502375.1:n.*1131G>A
ENST00000255078.7:c.1808G>A	ENSP00000255078.3:p.Arg603His
ENST00000539064.5:n.1567G>A
ENST00000541229.5:n.503G>A
ENST00000543739.5:n.801G>A
ENST00000545475.1:n.404G>A
NM_002180.2:c.1808G>A , LRG_250t1:c.1808G>A	NP_002171.2:p.Arg603His
XM_005273974.2:c.797G>A	XP_005274031.1:p.Arg266His
XM_005273975.2:c.680G>A	XP_005274032.1:p.Arg227His
XM_011544994.1:c.575G>A	XP_011543296.1:p.Arg192His
XR_949903.1:n.1910G>A
XM_005273975.3:c.680G>A	XP_005274032.1:p.Arg227His
XM_017017669.2:c.797G>A	XP_016873158.1:p.Arg266His
XM_017017670.2:c.797G>A	XP_016873159.1:p.Arg266His
XR_949903.3:n.1906G>A
NM_002180.3:c.1808G>A MANE Select	NP_002171.2:p.Arg603His