Canonical Allele Identifier: CA381650131

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933874-G-A
• MyVariant Identifiers: chr11:g.68701342G>A (hg19) ; chr11:g.68933874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933874G>A , CM000673.2:g.68933874G>A	GRCh38
NC_000011.9:g.68701342G>A , CM000673.1:g.68701342G>A	GRCh37
NC_000011.8:g.68457918G>A	NCBI36
NG_007976.1:g.35024G>A , LRG_250:g.35024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1498G>A MANE Select	ENSP00000255078.4:p.Glu500Lys
ENST00000674955.1:c.*215G>A	ENSP00000502463.1:n.*215G>A
ENST00000675118.1:c.986G>A
ENST00000675205.1:n.183+393G>A
ENST00000675615.1:c.1498G>A	ENSP00000502413.1:p.Glu500Lys
ENST00000675648.1:n.873G>A
ENST00000675997.1:n.113-590G>A
ENST00000676173.1:n.2243G>A
ENST00000676228.1:c.*821G>A	ENSP00000502375.1:n.*821G>A
ENST00000255078.7:c.1498G>A	ENSP00000255078.3:p.Glu500Lys
ENST00000537458.5:n.615G>A
ENST00000539064.5:n.1257G>A
ENST00000541229.5:n.193G>A
ENST00000543739.5:n.615G>A
NM_002180.2:c.1498G>A , LRG_250t1:c.1498G>A	NP_002171.2:p.Glu500Lys
XM_005273974.2:c.487G>A	XP_005274031.1:p.Glu163Lys
XM_005273975.2:c.370G>A	XP_005274032.1:p.Glu124Lys
XM_011544994.1:c.265G>A	XP_011543296.1:p.Glu89Lys
XR_949903.1:n.1600G>A
XM_005273975.3:c.370G>A	XP_005274032.1:p.Glu124Lys
XM_017017669.2:c.487G>A	XP_016873158.1:p.Glu163Lys
XM_017017670.2:c.487G>A	XP_016873159.1:p.Glu163Lys
XM_017017671.2:c.1498G>A	XP_016873160.1:p.Glu500Lys
XR_949903.3:n.1596G>A
NM_002180.3:c.1498G>A MANE Select	NP_002171.2:p.Glu500Lys