Canonical Allele Identifier: CA6153893

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs769685389
• ExAC: 11:68704311 G / A
• gnomAD v2: 11-68704311-G-A
• gnomAD v4: 11-68936843-G-A
• MyVariant Identifiers: chr11:g.68704311G>A (hg19) ; chr11:g.68936843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936843G>A , CM000673.2:g.68936843G>A	GRCh38
NC_000011.9:g.68704311G>A , CM000673.1:g.68704311G>A	GRCh37
NC_000011.8:g.68460887G>A	NCBI36
NG_007976.1:g.37993G>A , LRG_250:g.37993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2363G>A MANE Select	ENSP00000255078.4:p.Arg788Gln
ENST00000674675.1:c.587+20G>A
ENST00000674878.1:c.547+60G>A
ENST00000674955.1:c.*1080G>A	ENSP00000502463.1:n.*1080G>A
ENST00000675118.1:c.1851G>A
ENST00000675389.1:n.638G>A
ENST00000675615.1:c.2363G>A	ENSP00000502413.1:p.Arg788Gln
ENST00000675648.1:n.1738G>A
ENST00000675916.1:c.607G>A
ENST00000676173.1:n.3108G>A
ENST00000676182.1:c.794G>A
ENST00000676228.1:c.*1686G>A	ENSP00000502375.1:n.*1686G>A
ENST00000255078.7:c.2363G>A	ENSP00000255078.3:p.Arg788Gln
ENST00000539064.5:n.2122G>A
ENST00000543739.5:n.1356G>A
NM_002180.2:c.2363G>A , LRG_250t1:c.2363G>A	NP_002171.2:p.Arg788Gln
XM_005273974.2:c.1352G>A	XP_005274031.1:p.Arg451Gln
XM_005273975.2:c.1235G>A	XP_005274032.1:p.Arg412Gln
XM_011544994.1:c.1130G>A	XP_011543296.1:p.Arg377Gln
XR_949903.1:n.2465G>A
XM_005273975.3:c.1235G>A	XP_005274032.1:p.Arg412Gln
XM_017017669.2:c.1352G>A	XP_016873158.1:p.Arg451Gln
XM_017017670.2:c.1352G>A	XP_016873159.1:p.Arg451Gln
XR_949903.3:n.2461G>A
NM_002180.3:c.2363G>A MANE Select	NP_002171.2:p.Arg788Gln