Canonical Allele Identifier: CA2614749353

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933629-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933629C>A , CM000673.2:g.68933629C>A	GRCh38
NC_000011.9:g.68701097C>A , CM000673.1:g.68701097C>A	GRCh37
NC_000011.8:g.68457673C>A	NCBI36
NG_007976.1:g.34779C>A , LRG_250:g.34779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+148C>A MANE Select	ENSP00000255078.4:n.1418+148C>A
ENST00000674955.1:c.*135+148C>A	ENSP00000502463.1:n.*135+148C>A
ENST00000675118.1:c.906+148C>A
ENST00000675205.1:n.183+148C>A
ENST00000675615.1:c.1418+148C>A	ENSP00000502413.1:n.1418+148C>A
ENST00000675648.1:n.793+148C>A
ENST00000675997.1:n.113-835C>A
ENST00000676173.1:n.2163+148C>A
ENST00000676228.1:c.*741+148C>A	ENSP00000502375.1:n.*741+148C>A
ENST00000255078.7:c.1418+148C>A	ENSP00000255078.3:n.1418+148C>A
ENST00000537458.5:n.535+148C>A
ENST00000539064.5:n.1177+148C>A
ENST00000543739.5:n.535+148C>A
NM_002180.2:c.1418+148C>A , LRG_250t1:c.1418+148C>A	NP_002171.2:n.1418+148C>A
XM_005273974.2:c.407+148C>A	XP_005274031.1:n.407+148C>A
XM_005273975.2:c.290+148C>A	XP_005274032.1:n.290+148C>A
XM_011544994.1:c.185+148C>A	XP_011543296.1:n.185+148C>A
XR_949903.1:n.1520+148C>A
XM_005273975.3:c.290+148C>A	XP_005274032.1:n.290+148C>A
XM_017017669.2:c.407+148C>A	XP_016873158.1:n.407+148C>A
XM_017017670.2:c.407+148C>A	XP_016873159.1:n.407+148C>A
XM_017017671.2:c.1418+148C>A	XP_016873160.1:n.1418+148C>A
XR_949903.3:n.1516+148C>A
NM_002180.3:c.1418+148C>A MANE Select	NP_002171.2:n.1418+148C>A