Canonical Allele Identifier: CA381651545

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637268
• ClinVar RCV Id: RCV000789345
• dbSNP Id: rs1337346956
• MyVariant Identifiers: chr11:g.68703742C>A (hg19) ; chr11:g.68936274C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936274C>A , CM000673.2:g.68936274C>A	GRCh38
NC_000011.9:g.68703742C>A , CM000673.1:g.68703742C>A	GRCh37
NC_000011.8:g.68460318C>A	NCBI36
NG_007976.1:g.37424C>A , LRG_250:g.37424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1794C>A MANE Select	ENSP00000255078.4:p.Asn598Lys
ENST00000674675.1:c.38C>A
ENST00000674878.1:c.38C>A
ENST00000674955.1:c.*511C>A	ENSP00000502463.1:n.*511C>A
ENST00000675118.1:c.1282C>A
ENST00000675389.1:n.69C>A
ENST00000675615.1:c.1794C>A	ENSP00000502413.1:p.Asn598Lys
ENST00000675648.1:n.1169C>A
ENST00000675916.1:c.38C>A
ENST00000676173.1:n.2539C>A
ENST00000676182.1:c.225C>A
ENST00000676228.1:c.*1117C>A	ENSP00000502375.1:n.*1117C>A
ENST00000255078.7:c.1794C>A	ENSP00000255078.3:p.Asn598Lys
ENST00000539064.5:n.1553C>A
ENST00000541229.5:n.489C>A
ENST00000543739.5:n.787C>A
ENST00000545475.1:n.390C>A
NM_002180.2:c.1794C>A , LRG_250t1:c.1794C>A	NP_002171.2:p.Asn598Lys
XM_005273974.2:c.783C>A	XP_005274031.1:p.Asn261Lys
XM_005273975.2:c.666C>A	XP_005274032.1:p.Asn222Lys
XM_011544994.1:c.561C>A	XP_011543296.1:p.Asn187Lys
XR_949903.1:n.1896C>A
XM_005273975.3:c.666C>A	XP_005274032.1:p.Asn222Lys
XM_017017669.2:c.783C>A	XP_016873158.1:p.Asn261Lys
XM_017017670.2:c.783C>A	XP_016873159.1:p.Asn261Lys
XR_949903.3:n.1892C>A
NM_002180.3:c.1794C>A MANE Select	NP_002171.2:p.Asn598Lys