Canonical Allele Identifier: CA475278968

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2498527
• ClinVar RCV Id: RCV003222736
• dbSNP Id: rs1477724623
• MyVariant Identifiers: chr11:g.68703910G>A (hg19) ; chr11:g.68936442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936442G>A , CM000673.2:g.68936442G>A	GRCh38
NC_000011.9:g.68703910G>A , CM000673.1:g.68703910G>A	GRCh37
NC_000011.8:g.68460486G>A	NCBI36
NG_007976.1:g.37592G>A , LRG_250:g.37592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1962G>A MANE Select	ENSP00000255078.4:p.Glu654=
ENST00000674675.1:c.206G>A
ENST00000674878.1:c.206G>A
ENST00000674955.1:c.*679G>A	ENSP00000502463.1:n.*679G>A
ENST00000675118.1:c.1450G>A
ENST00000675389.1:n.237G>A
ENST00000675615.1:c.1962G>A	ENSP00000502413.1:p.Glu654=
ENST00000675648.1:n.1337G>A
ENST00000675916.1:c.206G>A
ENST00000676173.1:n.2707G>A
ENST00000676182.1:c.393G>A
ENST00000676228.1:c.*1285G>A	ENSP00000502375.1:n.*1285G>A
ENST00000255078.7:c.1962G>A	ENSP00000255078.3:p.Glu654=
ENST00000539064.5:n.1721G>A
ENST00000543739.5:n.955G>A
ENST00000545475.1:n.558G>A
NM_002180.2:c.1962G>A , LRG_250t1:c.1962G>A	NP_002171.2:p.Glu654=
XM_005273974.2:c.951G>A	XP_005274031.1:p.Glu317=
XM_005273975.2:c.834G>A	XP_005274032.1:p.Glu278=
XM_011544994.1:c.729G>A	XP_011543296.1:p.Glu243=
XR_949903.1:n.2064G>A
XM_005273975.3:c.834G>A	XP_005274032.1:p.Glu278=
XM_017017669.2:c.951G>A	XP_016873158.1:p.Glu317=
XM_017017670.2:c.951G>A	XP_016873159.1:p.Glu317=
XR_949903.3:n.2060G>A
NM_002180.3:c.1962G>A MANE Select	NP_002171.2:p.Glu654=