Canonical Allele Identifier: CA381651445

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859521077
• MyVariant Identifiers: chr11:g.68703707G>A (hg19) ; chr11:g.68936239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936239G>A , CM000673.2:g.68936239G>A	GRCh38
NC_000011.9:g.68703707G>A , CM000673.1:g.68703707G>A	GRCh37
NC_000011.8:g.68460283G>A	NCBI36
NG_007976.1:g.37389G>A , LRG_250:g.37389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1759G>A MANE Select	ENSP00000255078.4:p.Glu587Lys
ENST00000674675.1:c.3G>A
ENST00000674878.1:c.3G>A
ENST00000674955.1:c.*476G>A	ENSP00000502463.1:n.*476G>A
ENST00000675118.1:c.1247G>A
ENST00000675389.1:n.34G>A
ENST00000675615.1:c.1759G>A	ENSP00000502413.1:p.Glu587Lys
ENST00000675648.1:n.1134G>A
ENST00000675916.1:c.3G>A
ENST00000676173.1:n.2504G>A
ENST00000676182.1:c.190G>A
ENST00000676228.1:c.*1082G>A	ENSP00000502375.1:n.*1082G>A
ENST00000255078.7:c.1759G>A	ENSP00000255078.3:p.Glu587Lys
ENST00000539064.5:n.1518G>A
ENST00000541229.5:n.454G>A
ENST00000543739.5:n.752G>A
ENST00000545475.1:n.355G>A
NM_002180.2:c.1759G>A , LRG_250t1:c.1759G>A	NP_002171.2:p.Glu587Lys
XM_005273974.2:c.748G>A	XP_005274031.1:p.Glu250Lys
XM_005273975.2:c.631G>A	XP_005274032.1:p.Glu211Lys
XM_011544994.1:c.526G>A	XP_011543296.1:p.Glu176Lys
XR_949903.1:n.1861G>A
XM_005273975.3:c.631G>A	XP_005274032.1:p.Glu211Lys
XM_017017669.2:c.748G>A	XP_016873158.1:p.Glu250Lys
XM_017017670.2:c.748G>A	XP_016873159.1:p.Glu250Lys
XR_949903.3:n.1857G>A
NM_002180.3:c.1759G>A MANE Select	NP_002171.2:p.Glu587Lys