Canonical Allele Identifier: CA223413310

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1002204
• ClinVar RCV Id: RCV001298595 ; RCV002418898
• dbSNP Id: rs943141487
• gnomAD v2: 11-68704029-G-A
• gnomAD v3: 11-68936561-G-A
• gnomAD v4: 11-68936561-G-A
• COSMIC: COSM4833837
• MyVariant Identifiers: chr11:g.68704029G>A (hg19) ; chr11:g.68936561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936561G>A , CM000673.2:g.68936561G>A	GRCh38
NC_000011.9:g.68704029G>A , CM000673.1:g.68704029G>A	GRCh37
NC_000011.8:g.68460605G>A	NCBI36
NG_007976.1:g.37711G>A , LRG_250:g.37711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2081G>A MANE Select	ENSP00000255078.4:p.Arg694Gln
ENST00000674675.1:c.325G>A
ENST00000674878.1:c.325G>A
ENST00000674955.1:c.*798G>A	ENSP00000502463.1:n.*798G>A
ENST00000675118.1:c.1569G>A
ENST00000675389.1:n.356G>A
ENST00000675615.1:c.2081G>A	ENSP00000502413.1:p.Arg694Gln
ENST00000675648.1:n.1456G>A
ENST00000675916.1:c.325G>A
ENST00000676173.1:n.2826G>A
ENST00000676182.1:c.512G>A
ENST00000676228.1:c.*1404G>A	ENSP00000502375.1:n.*1404G>A
ENST00000255078.7:c.2081G>A	ENSP00000255078.3:p.Arg694Gln
ENST00000539064.5:n.1840G>A
ENST00000543739.5:n.1074G>A
NM_002180.2:c.2081G>A , LRG_250t1:c.2081G>A	NP_002171.2:p.Arg694Gln
XM_005273974.2:c.1070G>A	XP_005274031.1:p.Arg357Gln
XM_005273975.2:c.953G>A	XP_005274032.1:p.Arg318Gln
XM_011544994.1:c.848G>A	XP_011543296.1:p.Arg283Gln
XR_949903.1:n.2183G>A
XM_005273975.3:c.953G>A	XP_005274032.1:p.Arg318Gln
XM_017017669.2:c.1070G>A	XP_016873158.1:p.Arg357Gln
XM_017017670.2:c.1070G>A	XP_016873159.1:p.Arg357Gln
XR_949903.3:n.2179G>A
NM_002180.3:c.2081G>A MANE Select	NP_002171.2:p.Arg694Gln