Canonical Allele Identifier: CA381652607

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1024243
• ClinVar RCV Id: RCV001324402
• dbSNP Id: rs1566446312
• gnomAD v3: 11-68936482-G-A
• gnomAD v4: 11-68936482-G-A
• MyVariant Identifiers: chr11:g.68703950G>A (hg19) ; chr11:g.68936482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936482G>A , CM000673.2:g.68936482G>A	GRCh38
NC_000011.9:g.68703950G>A , CM000673.1:g.68703950G>A	GRCh37
NC_000011.8:g.68460526G>A	NCBI36
NG_007976.1:g.37632G>A , LRG_250:g.37632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2002G>A MANE Select	ENSP00000255078.4:p.Gly668Arg
ENST00000674675.1:c.246G>A
ENST00000674878.1:c.246G>A
ENST00000674955.1:c.*719G>A	ENSP00000502463.1:n.*719G>A
ENST00000675118.1:c.1490G>A
ENST00000675389.1:n.277G>A
ENST00000675615.1:c.2002G>A	ENSP00000502413.1:p.Gly668Arg
ENST00000675648.1:n.1377G>A
ENST00000675916.1:c.246G>A
ENST00000676173.1:n.2747G>A
ENST00000676182.1:c.433G>A
ENST00000676228.1:c.*1325G>A	ENSP00000502375.1:n.*1325G>A
ENST00000255078.7:c.2002G>A	ENSP00000255078.3:p.Gly668Arg
ENST00000539064.5:n.1761G>A
ENST00000543739.5:n.995G>A
NM_002180.2:c.2002G>A , LRG_250t1:c.2002G>A	NP_002171.2:p.Gly668Arg
XM_005273974.2:c.991G>A	XP_005274031.1:p.Gly331Arg
XM_005273975.2:c.874G>A	XP_005274032.1:p.Gly292Arg
XM_011544994.1:c.769G>A	XP_011543296.1:p.Gly257Arg
XR_949903.1:n.2104G>A
XM_005273975.3:c.874G>A	XP_005274032.1:p.Gly292Arg
XM_017017669.2:c.991G>A	XP_016873158.1:p.Gly331Arg
XM_017017670.2:c.991G>A	XP_016873159.1:p.Gly331Arg
XR_949903.3:n.2100G>A
NM_002180.3:c.2002G>A MANE Select	NP_002171.2:p.Gly668Arg