Canonical Allele Identifier: CA2614749251

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933495-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933495C>A , CM000673.2:g.68933495C>A	GRCh38
NC_000011.9:g.68700963C>A , CM000673.1:g.68700963C>A	GRCh37
NC_000011.8:g.68457539C>A	NCBI36
NG_007976.1:g.34645C>A , LRG_250:g.34645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+14C>A MANE Select	ENSP00000255078.4:n.1418+14C>A
ENST00000674955.1:c.*135+14C>A	ENSP00000502463.1:n.*135+14C>A
ENST00000675118.1:c.906+14C>A
ENST00000675205.1:n.183+14C>A
ENST00000675615.1:c.1418+14C>A	ENSP00000502413.1:n.1418+14C>A
ENST00000675648.1:n.793+14C>A
ENST00000675997.1:n.113-969C>A
ENST00000676173.1:n.2163+14C>A
ENST00000676228.1:c.*741+14C>A	ENSP00000502375.1:n.*741+14C>A
ENST00000255078.7:c.1418+14C>A	ENSP00000255078.3:n.1418+14C>A
ENST00000537458.5:n.535+14C>A
ENST00000539064.5:n.1177+14C>A
ENST00000543739.5:n.535+14C>A
NM_002180.2:c.1418+14C>A , LRG_250t1:c.1418+14C>A	NP_002171.2:n.1418+14C>A
XM_005273974.2:c.407+14C>A	XP_005274031.1:n.407+14C>A
XM_005273975.2:c.290+14C>A	XP_005274032.1:n.290+14C>A
XM_011544994.1:c.185+14C>A	XP_011543296.1:n.185+14C>A
XR_949903.1:n.1520+14C>A
XM_005273975.3:c.290+14C>A	XP_005274032.1:n.290+14C>A
XM_017017669.2:c.407+14C>A	XP_016873158.1:n.407+14C>A
XM_017017670.2:c.407+14C>A	XP_016873159.1:n.407+14C>A
XM_017017671.2:c.1418+14C>A	XP_016873160.1:n.1418+14C>A
XR_949903.3:n.1516+14C>A
NM_002180.3:c.1418+14C>A MANE Select	NP_002171.2:n.1418+14C>A