Canonical Allele Identifier: CA6153828

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 439819
• ClinVar RCV Id: RCV000505990 ; RCV000531881 ; RCV001113753 ; RCV001591156 ; RCV002420281
• dbSNP Id: rs149577588
• ExAC: 11:68703974 G / A
• gnomAD v2: 11-68703974-G-A
• gnomAD v3: 11-68936506-G-A
• gnomAD v4: 11-68936506-G-A
• MyVariant Identifiers: chr11:g.68703974G>A (hg19) ; chr11:g.68936506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936506G>A , CM000673.2:g.68936506G>A	GRCh38
NC_000011.9:g.68703974G>A , CM000673.1:g.68703974G>A	GRCh37
NC_000011.8:g.68460550G>A	NCBI36
NG_007976.1:g.37656G>A , LRG_250:g.37656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2026G>A MANE Select	ENSP00000255078.4:p.Gly676Arg
ENST00000674675.1:c.270G>A
ENST00000674878.1:c.270G>A
ENST00000674955.1:c.*743G>A	ENSP00000502463.1:n.*743G>A
ENST00000675118.1:c.1514G>A
ENST00000675389.1:n.301G>A
ENST00000675615.1:c.2026G>A	ENSP00000502413.1:p.Gly676Arg
ENST00000675648.1:n.1401G>A
ENST00000675916.1:c.270G>A
ENST00000676173.1:n.2771G>A
ENST00000676182.1:c.457G>A
ENST00000676228.1:c.*1349G>A	ENSP00000502375.1:n.*1349G>A
ENST00000255078.7:c.2026G>A	ENSP00000255078.3:p.Gly676Arg
ENST00000539064.5:n.1785G>A
ENST00000543739.5:n.1019G>A
NM_002180.2:c.2026G>A , LRG_250t1:c.2026G>A	NP_002171.2:p.Gly676Arg
XM_005273974.2:c.1015G>A	XP_005274031.1:p.Gly339Arg
XM_005273975.2:c.898G>A	XP_005274032.1:p.Gly300Arg
XM_011544994.1:c.793G>A	XP_011543296.1:p.Gly265Arg
XR_949903.1:n.2128G>A
XM_005273975.3:c.898G>A	XP_005274032.1:p.Gly300Arg
XM_017017669.2:c.1015G>A	XP_016873158.1:p.Gly339Arg
XM_017017670.2:c.1015G>A	XP_016873159.1:p.Gly339Arg
XR_949903.3:n.2124G>A
NM_002180.3:c.2026G>A MANE Select	NP_002171.2:p.Gly676Arg