Canonical Allele Identifier: CA381649493

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 657754
• ClinVar RCV Id: RCV000814435
• dbSNP Id: rs1594451539
• MyVariant Identifiers: chr11:g.68700949G>A (hg19) ; chr11:g.68933481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933481G>A , CM000673.2:g.68933481G>A	GRCh38
NC_000011.9:g.68700949G>A , CM000673.1:g.68700949G>A	GRCh37
NC_000011.8:g.68457525G>A	NCBI36
NG_007976.1:g.34631G>A , LRG_250:g.34631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418G>A MANE Select	ENSP00000255078.4:p.Arg473Lys
ENST00000536803.2:n.329G>A
ENST00000674955.1:c.*135G>A	ENSP00000502463.1:n.*135G>A
ENST00000675118.1:c.906G>A
ENST00000675205.1:n.183G>A
ENST00000675310.1:n.555G>A
ENST00000675615.1:c.1418G>A	ENSP00000502413.1:p.Arg473Lys
ENST00000675648.1:n.793G>A
ENST00000675997.1:n.113-983G>A
ENST00000676149.1:n.492G>A
ENST00000676173.1:n.2163G>A
ENST00000676228.1:c.*741G>A	ENSP00000502375.1:n.*741G>A
ENST00000255078.7:c.1418G>A	ENSP00000255078.3:p.Arg473Lys
ENST00000537458.5:n.535G>A
ENST00000539064.5:n.1177G>A
ENST00000543739.5:n.535G>A
NM_002180.2:c.1418G>A , LRG_250t1:c.1418G>A	NP_002171.2:p.Arg473Lys
XM_005273974.2:c.407G>A	XP_005274031.1:p.Arg136Lys
XM_005273975.2:c.290G>A	XP_005274032.1:p.Arg97Lys
XM_011544994.1:c.185G>A	XP_011543296.1:p.Arg62Lys
XR_949903.1:n.1520G>A
XM_005273975.3:c.290G>A	XP_005274032.1:p.Arg97Lys
XM_017017669.2:c.407G>A	XP_016873158.1:p.Arg136Lys
XM_017017670.2:c.407G>A	XP_016873159.1:p.Arg136Lys
XM_017017671.2:c.1418G>A	XP_016873160.1:p.Arg473Lys
XR_949903.3:n.1516G>A
NM_002180.3:c.1418G>A MANE Select	NP_002171.2:p.Arg473Lys