Canonical Allele Identifier: CA2614749349

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933627-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933627G>T , CM000673.2:g.68933627G>T	GRCh38
NC_000011.9:g.68701095G>T , CM000673.1:g.68701095G>T	GRCh37
NC_000011.8:g.68457671G>T	NCBI36
NG_007976.1:g.34777G>T , LRG_250:g.34777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+146G>T MANE Select	ENSP00000255078.4:n.1418+146G>T
ENST00000674955.1:c.*135+146G>T	ENSP00000502463.1:n.*135+146G>T
ENST00000675118.1:c.906+146G>T
ENST00000675205.1:n.183+146G>T
ENST00000675615.1:c.1418+146G>T	ENSP00000502413.1:n.1418+146G>T
ENST00000675648.1:n.793+146G>T
ENST00000675997.1:n.113-837G>T
ENST00000676173.1:n.2163+146G>T
ENST00000676228.1:c.*741+146G>T	ENSP00000502375.1:n.*741+146G>T
ENST00000255078.7:c.1418+146G>T	ENSP00000255078.3:n.1418+146G>T
ENST00000537458.5:n.535+146G>T
ENST00000539064.5:n.1177+146G>T
ENST00000543739.5:n.535+146G>T
NM_002180.2:c.1418+146G>T , LRG_250t1:c.1418+146G>T	NP_002171.2:n.1418+146G>T
XM_005273974.2:c.407+146G>T	XP_005274031.1:n.407+146G>T
XM_005273975.2:c.290+146G>T	XP_005274032.1:n.290+146G>T
XM_011544994.1:c.185+146G>T	XP_011543296.1:n.185+146G>T
XR_949903.1:n.1520+146G>T
XM_005273975.3:c.290+146G>T	XP_005274032.1:n.290+146G>T
XM_017017669.2:c.407+146G>T	XP_016873158.1:n.407+146G>T
XM_017017670.2:c.407+146G>T	XP_016873159.1:n.407+146G>T
XM_017017671.2:c.1418+146G>T	XP_016873160.1:n.1418+146G>T
XR_949903.3:n.1516+146G>T
NM_002180.3:c.1418+146G>T MANE Select	NP_002171.2:n.1418+146G>T