Canonical Allele Identifier: CA381653068

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1002798
• ClinVar RCV Id: RCV001299273
• dbSNP Id: rs1859546493
• gnomAD v4: 11-68936702-A-G
• MyVariant Identifiers: chr11:g.68704170A>G (hg19) ; chr11:g.68936702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936702A>G , CM000673.2:g.68936702A>G	GRCh38
NC_000011.9:g.68704170A>G , CM000673.1:g.68704170A>G	GRCh37
NC_000011.8:g.68460746A>G	NCBI36
NG_007976.1:g.37852A>G , LRG_250:g.37852A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2222A>G MANE Select	ENSP00000255078.4:p.Lys741Arg
ENST00000674675.1:c.466A>G
ENST00000674878.1:c.466A>G
ENST00000674955.1:c.*939A>G	ENSP00000502463.1:n.*939A>G
ENST00000675118.1:c.1710A>G
ENST00000675389.1:n.497A>G
ENST00000675615.1:c.2222A>G	ENSP00000502413.1:p.Lys741Arg
ENST00000675648.1:n.1597A>G
ENST00000675916.1:c.466A>G
ENST00000676173.1:n.2967A>G
ENST00000676182.1:c.653A>G
ENST00000676228.1:c.*1545A>G	ENSP00000502375.1:n.*1545A>G
ENST00000255078.7:c.2222A>G	ENSP00000255078.3:p.Lys741Arg
ENST00000539064.5:n.1981A>G
ENST00000543739.5:n.1215A>G
NM_002180.2:c.2222A>G , LRG_250t1:c.2222A>G	NP_002171.2:p.Lys741Arg
XM_005273974.2:c.1211A>G	XP_005274031.1:p.Lys404Arg
XM_005273975.2:c.1094A>G	XP_005274032.1:p.Lys365Arg
XM_011544994.1:c.989A>G	XP_011543296.1:p.Lys330Arg
XR_949903.1:n.2324A>G
XM_005273975.3:c.1094A>G	XP_005274032.1:p.Lys365Arg
XM_017017669.2:c.1211A>G	XP_016873158.1:p.Lys404Arg
XM_017017670.2:c.1211A>G	XP_016873159.1:p.Lys404Arg
XR_949903.3:n.2320A>G
NM_002180.3:c.2222A>G MANE Select	NP_002171.2:p.Lys741Arg