Canonical Allele Identifier: CA6153855

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 842961
• ClinVar RCV Id: RCV001045474
• dbSNP Id: rs765230277
• ExAC: 11:68704137 G / A
• gnomAD v2: 11-68704137-G-A
• gnomAD v3: 11-68936669-G-A
• gnomAD v4: 11-68936669-G-A
• COSMIC: COSM4963413
• MyVariant Identifiers: chr11:g.68704137G>A (hg19) ; chr11:g.68936669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936669G>A , CM000673.2:g.68936669G>A	GRCh38
NC_000011.9:g.68704137G>A , CM000673.1:g.68704137G>A	GRCh37
NC_000011.8:g.68460713G>A	NCBI36
NG_007976.1:g.37819G>A , LRG_250:g.37819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2189G>A MANE Select	ENSP00000255078.4:p.Arg730Gln
ENST00000674675.1:c.433G>A
ENST00000674878.1:c.433G>A
ENST00000674955.1:c.*906G>A	ENSP00000502463.1:n.*906G>A
ENST00000675118.1:c.1677G>A
ENST00000675389.1:n.464G>A
ENST00000675615.1:c.2189G>A	ENSP00000502413.1:p.Arg730Gln
ENST00000675648.1:n.1564G>A
ENST00000675916.1:c.433G>A
ENST00000676173.1:n.2934G>A
ENST00000676182.1:c.620G>A
ENST00000676228.1:c.*1512G>A	ENSP00000502375.1:n.*1512G>A
ENST00000255078.7:c.2189G>A	ENSP00000255078.3:p.Arg730Gln
ENST00000539064.5:n.1948G>A
ENST00000543739.5:n.1182G>A
NM_002180.2:c.2189G>A , LRG_250t1:c.2189G>A	NP_002171.2:p.Arg730Gln
XM_005273974.2:c.1178G>A	XP_005274031.1:p.Arg393Gln
XM_005273975.2:c.1061G>A	XP_005274032.1:p.Arg354Gln
XM_011544994.1:c.956G>A	XP_011543296.1:p.Arg319Gln
XR_949903.1:n.2291G>A
XM_005273975.3:c.1061G>A	XP_005274032.1:p.Arg354Gln
XM_017017669.2:c.1178G>A	XP_016873158.1:p.Arg393Gln
XM_017017670.2:c.1178G>A	XP_016873159.1:p.Arg393Gln
XR_949903.3:n.2287G>A
NM_002180.3:c.2189G>A MANE Select	NP_002171.2:p.Arg730Gln